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12q13.2

General Information: Available

Organism	Human
Points of Interest	rs2292239
Karyotype Band Location	12q13.2
Chromosomal Location (GRCh37)	Chr12:56351346-56805309
Region Size	0.45 Mb
Orthologous Regions	Mouse: Human 12q13.2 Orthologous Region Rat: Human 12q13.2 Orthologous Region
Genes in Region (26)	ANKRD52, APOF, CDK2, CNPY2, COQ10A, CS, ERBB3, ESYT1, IKZF4, IL23A, LOC100131294, MYL6, MYL6B, OBFC2B, PA2G4, PAN2, PMEL, RAB5B, RNF41, RPL41, RPS26, SLC39A5, SMARCC2, STAT2, SUOX, ZC3H10

View this region in the Human T1D Regions table.

Non-Synonymous SNPs in region dbSNP134:

Marker	Marker Source	Start	Strand	Peptide Shift	Gene Symbol (HGNC)	Gene ID (Entrez)	Amino Acid Position
rs149390347	dbSNP_134	56351360	+	Q/X	PMEL	6490	157
rs148568175	dbSNP_134	56351401	+	N/S	PMEL	6490	143
rs142962639	dbSNP_134	56351419	+	R/Q	PMEL	6490	137
rs147750511	dbSNP_134	56351428	+	S/F	PMEL	6490	134
rs145035997	dbSNP_134	56351763	+	R/Q	PMEL	6490	106
rs147576105	dbSNP_134	56351790	+	T/I	PMEL	6490	97
rs140775443	dbSNP_134	56351850	+	L/P	PMEL	6490	77
rs144749903	dbSNP_134	56352292	+	Q/P	PMEL	6490	59
rs145554367	dbSNP_134	56352302	+	S/P	PMEL	6490	56
rs138137321	dbSNP_134	56355143	+	P/S	PMEL	6490	98
rs11552310	dbSNP_134	56355193	-	N/I	PMEL	6490	81
rs142719170	dbSNP_134	56355218	+	D/N	PMEL	6490	73
rs144985891	dbSNP_134	56355460	+	N/D	PMEL	6490	45
rs11552309	dbSNP_134	56355481	-	Q/X	PMEL	6490	38
rs138836381	dbSNP_134	56355495	+	L/R	PMEL	6490	33
rs141458689	dbSNP_134	56355497	+	W/C	PMEL	6490	32
rs150858017	dbSNP_134	56355516	+	V/A	PMEL	6490	26
rs139342756	dbSNP_134	56360801	+	N/K	CDK2	1017	3
rs3087335	dbSNP_134	56360836	+	Y/S	CDK2	1017	15
rs113816950	dbSNP_134	56360838	+	G/R	CDK2	1017	16
rs11554376	dbSNP_134	56360844	+	V/L	CDK2	1017	18
rs11554375	dbSNP_134	56361844	+	V/A	CDK2	1017	69
rs68115818	dbSNP_134	56362699	+		CDK2	1017	151
rs144092294	dbSNP_134	56364973	+	R/Q	CDK2	1017	211
rs147336373	dbSNP_134	56365014	+	G/R	CDK2	1017	225
rs148619120	dbSNP_134	56365344	+	K/E	CDK2	1017	244
rs142099990	dbSNP_134	56365348	+	A/V	CDK2	1017	245
rs2069413	dbSNP_134	56365381	+	T/S	CDK2	1017	256
rs151173738	dbSNP_134	56380773	+	N/I	RAB5B	5869	10
rs145456965	dbSNP_134	56383766	+	T/A	RAB5B	5869	67
rs146500812	dbSNP_134	56383856	+	I/V	RAB5B	5869	97
rs140556276	dbSNP_134	56384529	+	V/I	RAB5B	5869	127
rs144909874	dbSNP_134	56385153	+	A/P	RAB5B	5869	150
rs117778870	dbSNP_134	56396395	+	R/H	SUOX	6821	40
rs149357066	dbSNP_134	56396494	+	H/R	SUOX	6821	73
rs143692780	dbSNP_134	56397420	+	H/N	SUOX	6821	83
rs148116515	dbSNP_134	56397468	+	G/R	SUOX	6821	99
rs143944760	dbSNP_134	56397519	+	D/N	SUOX	6821	116
rs147298492	dbSNP_134	56397582	+	W/R	SUOX	6821	137
rs139286617	dbSNP_134	56397597	+	V/I	SUOX	6821	142
rs143300414	dbSNP_134	56397643	+	I/T	SUOX	6821	157
rs147541837	dbSNP_134	56397681	+	V/M	SUOX	6821	170
rs111947844	dbSNP_134	56397687	+	T/A	SUOX	6821	172
rs139444405	dbSNP_134	56397747	+	R/W	SUOX	6821	192
rs149668783	dbSNP_134	56397755	+	F/L	SUOX	6821	194
rs141735896	dbSNP_134	56397802	+	P/L	SUOX	6821	210
rs76442086	dbSNP_134	56397807	+	P/S	SUOX	6821	212
rs121908007	dbSNP_134	56397823	+	R/Q	SUOX	6821	217
rs121908008	dbSNP_134	56397967	+	A/D	SUOX	6821	265
rs144064367	dbSNP_134	56397969	+	G/S	SUOX	6821	266
rs146481076	dbSNP_134	56397995	+	Q/H	SUOX	6821	274
rs150528313	dbSNP_134	56398119	+	V/I	SUOX	6821	316
rs143457531	dbSNP_134	56398141	+	S/L	SUOX	6821	323
rs34966621	dbSNP_134	56398261	+	F/Y	SUOX	6821	363
rs151226742	dbSNP_134	56398335	+	P/T	SUOX	6821	388
rs75679657	dbSNP_134	56398347	+	Y/H	SUOX	6821	392
rs150403991	dbSNP_134	56398455	+	A/T	SUOX	6821	428
rs61733163	dbSNP_134	56398470	+	R/W	SUOX	6821	433
rs142424431	dbSNP_134	56398479	+	E/K	SUOX	6821	436
rs146626318	dbSNP_134	56398500	+	V/L	SUOX	6821	443
rs76537761	dbSNP_134	56398531	+	G/D	SUOX	6821	453
rs143228843	dbSNP_134	56398633	+	A/V	SUOX	6821	487
rs144817821	dbSNP_134	56398639	+	R/H	SUOX	6821	489
rs140170880	dbSNP_134	56398648	+		SUOX	6821	492
rs75149310	dbSNP_134	56398650	+	L/V	SUOX	6821	493
rs121908009	dbSNP_134	56398762	+	G/D	SUOX	6821	530
rs79137765	dbSNP_134	56415317	+	G/S	IKZF4	64375	14
rs144131368	dbSNP_134	56415320	+	G/S	IKZF4	64375	15
rs147293117	dbSNP_134	56415344	+	H/Y	IKZF4	64375	23
rs75600413	dbSNP_134	56415348	+	R/Q	IKZF4	64375	24
rs34430201	dbSNP_134	56420698	+	D/E	IKZF4	64375	140
rs146915234	dbSNP_134	56420706	+	G/A	IKZF4	64375	143
rs35114214	dbSNP_134	56428388	+	L/P	IKZF4	64375	344
rs113615341	dbSNP_134	56428408	+	G/C	IKZF4	64375	351
rs143951267	dbSNP_134	56435951	+	M/V	RPS26	6231
rs146651856	dbSNP_134	56436281	+	C/R	RPS26	6231	26
rs140419130	dbSNP_134	56436283	+		RPS26	6231	26
rs142032466	dbSNP_134	56436287	+	R/G	RPS26	6231	28
rs150229551	dbSNP_134	56437184	+	Y/X	RPS26	6231	73
rs138813880	dbSNP_134	56437196	+	C/W	RPS26	6231	77
rs148942765	dbSNP_134	56437224	+	R/X	RPS26	6231	87
rs139901748	dbSNP_134	56437906	+	A/S	RPS26	6231	106
rs67420827	dbSNP_134	56474137	+	R/R	ERBB3	2065	18
rs34379766	dbSNP_134	56474143	+	S/Y	ERBB3	2065	20
rs56017157	dbSNP_134	56477541	+	P/L	ERBB3	2065	30
rs142735651	dbSNP_134	56477655	+	T/M	ERBB3	2065	68
rs143770796	dbSNP_134	56477669	+	D/N	ERBB3	2065	73
rs77228285	dbSNP_134	56478809	+	V/M	ERBB3	2065	89
rs146486757	dbSNP_134	56478851	+	R/C	ERBB3	2065	103
rs984896	dbSNP_134	56478858	-	V/G	ERBB3	2065	105
rs147905731	dbSNP_134	56480350	+	D/N	ERBB3	2065	153
rs141700623	dbSNP_134	56480362	+	H/Y	ERBB3	2065	157
rs139542888	dbSNP_134	56480402	+	R/Q	ERBB3	2065	170
rs150454821	dbSNP_134	56481406	+	G/V	ERBB3	2065	198
rs146860437	dbSNP_134	56481411	+	E/K	ERBB3	2065	200
rs56107455	dbSNP_134	56481424	+	T/I	ERBB3	2065	204
rs67617070	dbSNP_134	56481659	+		ERBB3	2065	232
rs140656187	dbSNP_134	56481659	+	A/S	ERBB3	2065	232
rs66493360	dbSNP_134	56481868	+		ERBB3	2065	266
rs66541610	dbSNP_134	56481869	+		ERBB3	2065	266
rs149635848	dbSNP_134	56481925	+	V/I	ERBB3	2065	285
rs143406438	dbSNP_134	56481941	+	C/Y	ERBB3	2065	290
rs66487818	dbSNP_134	56481943	+	P/P	ERBB3	2065	291
rs137870123	dbSNP_134	56482393	+	K/R	ERBB3	2065	314
rs12320176	dbSNP_134	56486575	+	N/S	ERBB3	2065	385
rs139868331	dbSNP_134	56486592	+	R/W	ERBB3	2065	391
rs74763375	dbSNP_134	56486826	+	N/H	ERBB3	2065	414
rs141230043	dbSNP_134	56486839	+	I/N	ERBB3	2065	418
rs34331509	dbSNP_134	56487139	+	S/L	ERBB3	2065	429
rs144549266	dbSNP_134	56487212	+	R/H	ERBB3	2065	453
rs149951770	dbSNP_134	56487323	+	R/H	ERBB3	2065	490
rs146593760	dbSNP_134	56487560	+	K/I	ERBB3	2065	498
rs145108143	dbSNP_134	56487605	+	G/D	ERBB3	2065	513
rs117620217	dbSNP_134	56487658	+	T/S	ERBB3	2065	531
rs147888915	dbSNP_134	56487664	+	C/R	ERBB3	2065	533
rs141636701	dbSNP_134	56488210	+	A/T	ERBB3	2065	577
rs66469469	dbSNP_134	56488290	+	Y/Y	ERBB3	2065	603
rs143726790	dbSNP_134	56488324	+	E/K	ERBB3	2065	615
rs151083303	dbSNP_134	56489052	+	P/R	ERBB3	2065	624
rs141054346	dbSNP_134	56489084	+	V/M	ERBB3	2065	635
rs139022684	dbSNP_134	56489516	+	G/S	ERBB3	2065	661
rs67368571	dbSNP_134	56489526	+	L/H	ERBB3	2065	664
rs66590765	dbSNP_134	56489532	+		ERBB3	2065	666
rs67681056	dbSNP_134	56489533	+		ERBB3	2065	666
rs56387488	dbSNP_134	56489582	+	R/W	ERBB3	2065	683
rs138548737	dbSNP_134	56490289	+	S/R	ERBB3	2065	686
rs35961836	dbSNP_134	56490381	+	S/L	ERBB3	2065	717
rs55787439	dbSNP_134	56490587	+	I/T	ERBB3	2065	744
rs3891921	dbSNP_134	56490628	+	D/H	ERBB3	2065	758
rs67833389	dbSNP_134	56490846	+		ERBB3	2065	764
rs67651310	dbSNP_134	56490925	+		ERBB3	2065	791
rs144510847	dbSNP_134	56490937	+	L/V	ERBB3	2065	795
rs148448153	dbSNP_134	56490958	+	H/Y	ERBB3	2065	802
rs80185484	dbSNP_134	56490967	+	A/P	ERBB3	2065	805
rs147206496	dbSNP_134	56491641	+	P/A	ERBB3	2065	845
rs143021252	dbSNP_134	56491714	+	S/N	ERBB3	2065	869
rs144558290	dbSNP_134	56492587	+	A/T	ERBB3	2065	913
rs60586767	dbSNP_134	56493476	+	A/T	ERBB3	2065	962
rs56259600	dbSNP_134	56493677	+	K/R	ERBB3	2065	998
rs139267530	dbSNP_134	56493741	+	E/D	ERBB3	2065	1019
rs150001629	dbSNP_134	56493755	+	T/N	ERBB3	2065	1024
rs149181380	dbSNP_134	56493803	+	R/Q	ERBB3	2065	1040
rs151311358	dbSNP_134	56493973	+	S/G	ERBB3	2065	1049
rs17118292	dbSNP_134	56493993	-	M/I	ERBB3	2065	1055
rs68009282	dbSNP_134	56494858	+	S/F	ERBB3	2065	1072
rs112651994	dbSNP_134	56494872	+	R/W	ERBB3	2065	1077
rs77822103	dbSNP_134	56494932	+	S/P	ERBB3	2065	1097
rs67044459	dbSNP_134	56494937	+	E/E	ERBB3	2065	1098
rs138517750	dbSNP_134	56494995	+	R/W	ERBB3	2065	1118
rs773123	dbSNP_134	56494998	-	S/C	ERBB3	2065	1119
rs2271188	dbSNP_134	56495023	-	R/H	ERBB3	2065	1127
rs150312718	dbSNP_134	56495034	+	A/T	ERBB3	2065	1131
rs79759315	dbSNP_134	56495049	+	R/S	ERBB3	2065	1136
rs149495975	dbSNP_134	56495092	+	G/A	ERBB3	2065	1150
rs138861245	dbSNP_134	56495328	+	R/Q	ERBB3	2065	1173
rs67808073	dbSNP_134	56495334	+		ERBB3	2065	1175
rs55699040	dbSNP_134	56495339	+	L/I	ERBB3	2065	1177
rs67708249	dbSNP_134	56495343	+	S/F	ERBB3	2065	1178
rs147436223	dbSNP_134	56495397	+	E/G	ERBB3	2065	1196
rs55709407	dbSNP_134	56495571	+	T/K	ERBB3	2065	1254
rs142809206	dbSNP_134	56495604	+	R/P	ERBB3	2065	1265
rs11171743	dbSNP_134	56495621	+	G/S	ERBB3	2065	1271
rs68165804	dbSNP_134	56495658	+		ERBB3	2065	1283
rs143742672	dbSNP_134	56495678	+	E/X	ERBB3	2065	1290
rs71859085	dbSNP_134	56495685	+	M/I	ERBB3	2065	1292
rs68106378	dbSNP_134	56495721	+	H/P	ERBB3	2065	1304
rs146842909	dbSNP_134	56495723	+	V/I	ERBB3	2065	1305
rs140679673	dbSNP_134	56495835	+	T/M	ERBB3	2065	1342
rs144476801	dbSNP_134	56498590	+	M/I	PA2G4	5036	23
rs71459343	dbSNP_134	56500407	+	G/S	PA2G4	5036	42
rs150178932	dbSNP_134	56500453	+	M/T	PA2G4	5036	57
rs11549089	dbSNP_134	56500481	+	K/K	PA2G4	5036	66
rs148811324	dbSNP_134	56500776	+	I/V	PA2G4	5036	74
rs114268672	dbSNP_134	56500872	+	V/I	PA2G4	5036	106
rs34197050	dbSNP_134	56504194	+		PA2G4	5036	214
rs11549086	dbSNP_134	56504241	+	V/I	PA2G4	5036	230
rs138795633	dbSNP_134	56504824	+	V/I	PA2G4	5036	307
rs138090957	dbSNP_134	56505046	+	P/S	PA2G4	5036	340
rs114006569	dbSNP_134	56505312	+	K/R	PA2G4	5036	373
rs142634315	dbSNP_134	56514374	+	G/S	ZC3H10	84872	10
rs143673140	dbSNP_134	56514414	+	S/N	ZC3H10	84872	23
rs61732294	dbSNP_134	56514660	+	Y/C	ZC3H10	84872	105
rs149860743	dbSNP_134	56514704	+	A/T	ZC3H10	84872	120
rs75082344	dbSNP_134	56514749	+	E/Q	ZC3H10	84872	135
rs141980139	dbSNP_134	56514893	+	P/T	ZC3H10	84872	183
rs145833211	dbSNP_134	56514902	+	R/C	ZC3H10	84872	186
rs147799715	dbSNP_134	56514937	+	D/E	ZC3H10	84872	197
rs146983581	dbSNP_134	56515133	+	A/P	ZC3H10	84872	263
rs141780038	dbSNP_134	56515167	+	Q/R	ZC3H10	84872	274
rs150174605	dbSNP_134	56515172	+	R/C	ZC3H10	84872	276
rs138695692	dbSNP_134	56515176	+	N/S	ZC3H10	84872	277
rs139617086	dbSNP_134	56515229	+	L/V	ZC3H10	84872	295
rs144328743	dbSNP_134	56515479	+	A/V	ZC3H10	84872	378
rs148777795	dbSNP_134	56522240	+	G/A	ESYT1	23344	46
rs140253116	dbSNP_134	56522434	+	D/N	ESYT1	23344	111
rs144202837	dbSNP_134	56522440	+	E/K	ESYT1	23344	113
rs141221606	dbSNP_134	56524623	+	L/V	ESYT1	23344	161
rs144990033	dbSNP_134	56524642	+	P/L	ESYT1	23344	167
rs143166654	dbSNP_134	56524874	+	Q/H	ESYT1	23344	206
rs138764704	dbSNP_134	56525033	+	V/A	ESYT1	23344	216
rs141902607	dbSNP_134	56525270	+	V/I	ESYT1	23344	242
rs145633492	dbSNP_134	56525280	+	V/A	ESYT1	23344	245
rs140431274	dbSNP_134	56525298	+	I/T	ESYT1	23344	251
rs142834947	dbSNP_134	56525315	+	V/M	ESYT1	23344	257
rs150646136	dbSNP_134	56525330	+	M/L	ESYT1	23344	262
rs139843541	dbSNP_134	56525343	+	R/Q	ESYT1	23344	266
rs71736898	dbSNP_134	56526118	+		ESYT1	23344	329
rs149405596	dbSNP_134	56526275	+	I/T	ESYT1	23344	352
rs144813082	dbSNP_134	56526301	+	L/V	ESYT1	23344	361
rs140189916	dbSNP_134	56526308	+	R/H	ESYT1	23344	363
rs145708223	dbSNP_134	56526337	+	V/F	ESYT1	23344	373
rs139487802	dbSNP_134	56527229	+	Q/X	ESYT1	23344	425
rs142549493	dbSNP_134	56527238	+	V/I	ESYT1	23344	428
rs112882931	dbSNP_134	56527596	+	R/Q	ESYT1	23344	471
rs149720231	dbSNP_134	56528168	+	R/W	ESYT1	23344	530
rs112615491	dbSNP_134	56528169	+	R/Q	ESYT1	23344	530
rs140388482	dbSNP_134	56530552	+	T/P	ESYT1	23344	553
rs138187966	dbSNP_134	56531012	+	L/W	ESYT1	23344	598
rs149142059	dbSNP_134	56531013	+	L/F	ESYT1	23344	598
rs145632847	dbSNP_134	56531117	+	R/Q	ESYT1	23344	633
rs115884011	dbSNP_134	56531155	+	E/K	ESYT1	23344	646
rs71737240	dbSNP_134	56531156	+		ESYT1	23344	646
rs144074014	dbSNP_134	56531439	+	R/C	ESYT1	23344	699
rs149880853	dbSNP_134	56531847	+	F/I	ESYT1	23344	746
rs113588232	dbSNP_134	56531853	+	D/Y	ESYT1	23344	748
rs35075600	dbSNP_134	56532009	+	R/C	ESYT1	23344	764
rs146719078	dbSNP_134	56532225	+	S/T	ESYT1	23344	792
rs140352451	dbSNP_134	56532228	+	A/V	ESYT1	23344	793
rs146519097	dbSNP_134	56532264	+	E/G	ESYT1	23344	805
rs140909985	dbSNP_134	56532282	+	P/L	ESYT1	23344	811
rs150191812	dbSNP_134	56532553	+	L/Q	ESYT1	23344	812
rs79083300	dbSNP_134	56532718	+	S/W	ESYT1	23344	838
rs147070386	dbSNP_134	56532720	+	Q/K	ESYT1	23344	839
rs138457013	dbSNP_134	56532794	+	L/F	ESYT1	23344	863
rs144008887	dbSNP_134	56536073	+	R/Q	ESYT1	23344	866
rs148075380	dbSNP_134	56536090	+	V/M	ESYT1	23344	872
rs148377879	dbSNP_134	56536129	+	V/M	ESYT1	23344	885
rs150505165	dbSNP_134	56536450	+	S/L	ESYT1	23344	941
rs139477040	dbSNP_134	56536480	+	A/G	ESYT1	23344	951
rs150368367	dbSNP_134	56536686	+	R/X	ESYT1	23344	986
rs146217441	dbSNP_134	56536808	+	R/X	ESYT1	23344	999
rs139259039	dbSNP_134	56536817	+	G/R	ESYT1	23344	1002
rs138079553	dbSNP_134	56536820	+	R/C	ESYT1	23344	1003
rs118093586	dbSNP_134	56536821	+	R/H	ESYT1	23344	1003
rs149547694	dbSNP_134	56536827	+	P/L	ESYT1	23344	1005
rs148687619	dbSNP_134	56536872	+	R/Q	ESYT1	23344	1020
rs113072447	dbSNP_134	56536931	+	R/G	ESYT1	23344	1040
rs35264647	dbSNP_134	56547767	+	A/G	MYL6B	140465	22
rs112387717	dbSNP_134	56547800	+	K/R	MYL6B	140465	33
rs142239260	dbSNP_134	56548616	+	Q/L	MYL6B	140465	65
rs151242776	dbSNP_134	56548846	+	K/N	MYL6B	140465	70
rs113561180	dbSNP_134	56548879	+	D/E	MYL6B	140465	81
rs147053511	dbSNP_134	56548915	+	M/I	MYL6B	140465	93
rs146762764	dbSNP_134	56548950	+	V/E	MYL6B	140465	105
rs77682403	dbSNP_134	56548970	+	P/S	MYL6B	140465	112
rs143110472	dbSNP_134	56548977	+	S/N	MYL6B	140465	114
rs149424698	dbSNP_134	56549214	+	R/W	MYL6B	140465	120
rs143830605	dbSNP_134	56549218	+	R/H	MYL6B	140465	121
rs11556402	dbSNP_134	56549223	+	D/N	MYL6B	140465	123
rs141538526	dbSNP_134	56549331	+	G/S	MYL6B	140465	159
rs146197485	dbSNP_134	56551258	+	K/T	MYL6B	140465	176
rs139194953	dbSNP_134	56551264	+	T/S	MYL6B	140465	178
rs11553511	dbSNP_134	56553828	+	D/G	MYL6	4637	82
rs139585397	dbSNP_134	56553833	+	G/S	MYL6	4637	84
rs149738823	dbSNP_134	56553836	+	T/P	MYL6	4637	85
rs11553509	dbSNP_134	56553837	+	T/I	MYL6	4637	85
rs1804000	dbSNP_134	56553848	+	Y/H	MYL6	4637	89
rs1050470	dbSNP_134	56553890	+	T/P	MYL6	4637	103
rs1804001	dbSNP_134	56553915	+	H/L	MYL6	4637	111
rs1131230	dbSNP_134	56553929	+	L/M	MYL6	4637	116
rs1131525	dbSNP_134	56554036	+	M/T	MYL6	4637	120
rs3210158	dbSNP_134	56554047	+	E/K	MYL6	4637	124
rs1050699	dbSNP_134	56554053	+	E/K	MYL6	4637	126
rs145318577	dbSNP_134	56558438	+	V/M	SMARCC2	6601	1104
rs147239359	dbSNP_134	56558450	+	G/R	SMARCC2	6601	1100
rs76701112	dbSNP_134	56558483	+	P/S	SMARCC2	6601	1089
rs112588326	dbSNP_134	56558489	+	T/A	SMARCC2	6601	1087
rs144685761	dbSNP_134	56559114	+	P/T	SMARCC2	6601	1074
rs145766006	dbSNP_134	56559119	+	P/L	SMARCC2	6601	1072
rs148968367	dbSNP_134	56559224	+	S/N	SMARCC2	6601	1037
rs142919948	dbSNP_134	56559263	+	V/A	SMARCC2	6601	1024
rs151100182	dbSNP_134	56559323	+	P/L	SMARCC2	6601	1004
rs1058308	dbSNP_134	56559417	-	A/P	SMARCC2	6601	973
rs17850996	dbSNP_134	56561973	+	L/F	SMARCC2	6601	907
rs140820398	dbSNP_134	56563330	+	A/T	SMARCC2	6601	900
rs144543721	dbSNP_134	56563372	+	E/K	SMARCC2	6601	886
rs111975931	dbSNP_134	56563987	+	S/G	SMARCC2	6601	785
rs140670910	dbSNP_134	56565151	+	E/Q	SMARCC2	6601	751
rs11539383	dbSNP_134	56565196	-	E/K	SMARCC2	6601	736
rs142274577	dbSNP_134	56565543	+	N/S	SMARCC2	6601	702
rs1135925	dbSNP_134	56566379	-	V/A	SMARCC2	6601	618
rs117244656	dbSNP_134	56567589	+	V/E	SMARCC2	6601	514
rs111553746	dbSNP_134	56571858	+	R/G	SMARCC2	6601	444
rs146882154	dbSNP_134	56572306	+	N/D	SMARCC2	6601	398
rs74957338	dbSNP_134	56572316	+	D/E	SMARCC2	6601	394
rs143026086	dbSNP_134	56574827	+	L/V	SMARCC2	6601	339
rs140180774	dbSNP_134	56575338	+	N/S	SMARCC2	6601	295
rs111398545	dbSNP_134	56575595	+	T/A	SMARCC2	6601	245
rs113040780	dbSNP_134	56575600	+	L/P	SMARCC2	6601	243
rs35144716	dbSNP_134	56575834	+	I/N	SMARCC2	6601	221
rs138923102	dbSNP_134	56580022	+	I/M	SMARCC2	6601	78
rs141878487	dbSNP_134	56583238	+	V/A	SMARCC2	6601	3
rs140109798	dbSNP_134	56600427	+	R/H	RNF41	10193	253
rs146862018	dbSNP_134	56601490	+	R/H	RNF41	10193	181
rs139405986	dbSNP_134	56601501	+	M/I	RNF41	10193	177
rs146426971	dbSNP_134	56601981	+	T/M	RNF41	10193	155
rs148827697	dbSNP_134	56602002	+	R/H	RNF41	10193	148
rs34163253	dbSNP_134	56602037	+	K/N	RNF41	10193	136
rs142114673	dbSNP_134	56604166	+	V/I	RNF41	10193	93
rs145927610	dbSNP_134	56604172	+	S/G	RNF41	10193	91
rs138861137	dbSNP_134	56604349	+	P/S	RNF41	10193	32
rs150381609	dbSNP_134	56607816	+	T/A	RNF41	10193	6
rs142956608	dbSNP_134	56620194	+	A/T	OBFC2B	79035	143
rs151118817	dbSNP_134	56622894	+	R/Q	OBFC2B	79035	178
rs116413529	dbSNP_134	56625068	+	S/P	SLC39A5	283375	4
rs145025351	dbSNP_134	56625081	+	H/R	SLC39A5	283375	8
rs147572362	dbSNP_134	56625114	+	L/S	SLC39A5	283375	19
rs142044538	dbSNP_134	56625203	+	E/K	SLC39A5	283375	49
rs117936932	dbSNP_134	56625234	+	A/V	SLC39A5	283375	59
rs143583398	dbSNP_134	56625300	+	L/P	SLC39A5	283375	81
rs148061940	dbSNP_134	56625309	+	R/Q	SLC39A5	283375	84
rs76909887	dbSNP_134	56626573	+	R/C	SLC39A5	283375	130
rs150922607	dbSNP_134	56626574	+	R/H	SLC39A5	283375	130
rs144977611	dbSNP_134	56626576	+	G/R	SLC39A5	283375	131
rs138831630	dbSNP_134	56626630	+	S/P	SLC39A5	283375	149
rs141402989	dbSNP_134	56628681	+	A/V	SLC39A5	283375	182
rs146312464	dbSNP_134	56628713	+	D/N	SLC39A5	283375	193
rs147133811	dbSNP_134	56629033	+	R/W	SLC39A5	283375	243
rs114552970	dbSNP_134	56629034	+	R/Q	SLC39A5	283375	243
rs144269176	dbSNP_134	56629058	+	A/V	SLC39A5	283375	251
rs151172329	dbSNP_134	56629064	+	A/V	SLC39A5	283375	253
rs149930882	dbSNP_134	56629356	+	R/W	SLC39A5	283375	273
rs145032606	dbSNP_134	56629357	+	R/Q	SLC39A5	283375	273
rs144913593	dbSNP_134	56629417	+	G/A	SLC39A5	283375	293
rs140518615	dbSNP_134	56629447	+	N/I	SLC39A5	283375	303
rs145666015	dbSNP_134	56629471	+	R/Q	SLC39A5	283375	311
rs111875033	dbSNP_134	56630186	+	C/R	SLC39A5	283375	318
rs148112570	dbSNP_134	56630198	+	R/X	SLC39A5	283375	322
rs150662274	dbSNP_134	56630216	+	R/C	SLC39A5	283375	328
rs149897918	dbSNP_134	56630217	+	R/H	SLC39A5	283375	328
rs143941758	dbSNP_134	56630229	+	P/L	SLC39A5	283375	332
rs148647797	dbSNP_134	56630241	+	S/T	SLC39A5	283375	336
rs144543042	dbSNP_134	56630244	+	G/E	SLC39A5	283375	337
rs143285853	dbSNP_134	56630271	+	A/V	SLC39A5	283375	346
rs147539865	dbSNP_134	56630410	+	P/S	SLC39A5	283375	363
rs74812296	dbSNP_134	56630444	+	S/T	SLC39A5	283375	374
rs144206133	dbSNP_134	56630447	+	H/L	SLC39A5	283375	375
rs142581626	dbSNP_134	56630503	+	H/Y	SLC39A5	283375	394
rs150978302	dbSNP_134	56630505	+	H/Q	SLC39A5	283375	394
rs140453919	dbSNP_134	56630972	+	R/W	SLC39A5	283375	443
rs150400071	dbSNP_134	56630973	+	R/Q	SLC39A5	283375	443
rs145213363	dbSNP_134	56630979	+	L/R	SLC39A5	283375	445
rs76216511	dbSNP_134	56630985	+	L/P	SLC39A5	283375	447
rs143299854	dbSNP_134	56631002	+	G/R	SLC39A5	283375	453
rs139208152	dbSNP_134	56631012	+	G/A	SLC39A5	283375	456
rs147102571	dbSNP_134	56631394	+	P/L	SLC39A5	283375	501
rs2293511	dbSNP_134	56631409	+	T/M	SLC39A5	283375	506
rs144141700	dbSNP_134	56631487	+	R/Q	SLC39A5	283375	532
rs747890	dbSNP_134	56636931	+	E/Q	ANKRD52	283373	1076
rs59626664	dbSNP_134	56636975	+	S/T	ANKRD52	283373	1061
rs147341241	dbSNP_134	56637149	+	P/R	ANKRD52	283373	1003
rs145630947	dbSNP_134	56638176	+	D/E	ANKRD52	283373	922
rs148806264	dbSNP_134	56638971	+	H/R	ANKRD52	283373	803
rs12305753	dbSNP_134	56645974	+	S/F	ANKRD52	283373	499
rs35020908	dbSNP_134	56646842	+	L/L	ANKRD52	283373	376
rs34685771	dbSNP_134	56646869	+	R/R	ANKRD52	283373	367
rs78915481	dbSNP_134	56648461	+	D/E	ANKRD52	283373	198
rs34795867	dbSNP_134	56648466	+	G/G	ANKRD52	283373	196
rs71459349	dbSNP_134	56649624	+	A/S	ANKRD52	283373	136
rs138117650	dbSNP_134	56651097	+	V/I	ANKRD52	283373	54
rs79310796	dbSNP_134	56651618	+	N/K	ANKRD52	283373	35
rs4759212	dbSNP_134	56652031	-	D/G	ANKRD52	283373	8
rs60542959	dbSNP_134	56660905	+	M/I	COQ10A	93058
rs11543258	dbSNP_134	56661679	+	P/H	COQ10A	93058	79
rs3184994	dbSNP_134	56664048	+	P/S	COQ10A	93058	231
rs148374703	dbSNP_134	56664067	+	R/H	COQ10A	93058	237
rs139054969	dbSNP_134	56666881	+	S/F	CS	1431	463
rs28389781	dbSNP_134	56667025	+	T/M	CS	1431	415
rs744050	dbSNP_134	56667386	-	S/R	CS	1431	405
rs11552472	dbSNP_134	56667428	-	Q/H	CS	1431	391
rs149476836	dbSNP_134	56667493	+	N/D	CS	1431	370
rs78871887	dbSNP_134	56667528	+	T/I	CS	1431	358
rs112704313	dbSNP_134	56668569	+	S/P	CS	1431	338
rs12369620	dbSNP_134	56668892	+	S/I	CS	1431	271
rs143827564	dbSNP_134	56669892	+	G/S	CS	1431	226
rs148174458	dbSNP_134	56669977	+	L/F	CS	1431	197
rs77708038	dbSNP_134	56676232	+	Q/R	CS	1431	187
rs116165297	dbSNP_134	56676244	+	R/Q	CS	1431	183
rs140943640	dbSNP_134	56676673	+	V/I	CS	1431	124
rs1802237	dbSNP_134	56679741	-	Q/E	CS	1431	54
rs11552470	dbSNP_134	56679776	+	P/L	CS	1431	42
rs141696406	dbSNP_134	56679780	+	I/V	CS	1431	41
rs147086028	dbSNP_134	56693981	+	A/G	CS	1431	2
rs144428833	dbSNP_134	56704347	+	D/N	CNPY2	10330	180
rs113524609	dbSNP_134	56704370	+	D/G	CNPY2	10330	172
rs149635541	dbSNP_134	56704780	+	A/V	CNPY2	10330	156
rs141635081	dbSNP_134	56705032	+	R/Q	CNPY2	10330	124
rs145953285	dbSNP_134	56705190	+	Y/X	CNPY2	10330	71
rs71809533	dbSNP_134	56705201	+		CNPY2	10330	68
rs139859428	dbSNP_134	56708693	+	K/T	CNPY2	10330	49
rs79111613	dbSNP_134	56708706	+	V/M	CNPY2	10330	45
rs11551983	dbSNP_134	56708709	-	Q/E	CNPY2	10330	44
rs146235856	dbSNP_134	56711422	+	A/T	PAN2	9924	1190
rs139327769	dbSNP_134	56712061	+	D/E	PAN2	9924	1174
rs35277708	dbSNP_134	56712167	+		PAN2	9924	1139
rs145100205	dbSNP_134	56713694	+	I/T	PAN2	9924	967
rs148704380	dbSNP_134	56713737	+	H/Y	PAN2	9924	953
rs147887898	dbSNP_134	56713797	+	P/S	PAN2	9924	933
rs34404784	dbSNP_134	56716948	+	I/M	PAN2	9924	797
rs61761600	dbSNP_134	56716955	+	P/L	PAN2	9924	795
rs138946880	dbSNP_134	56717351	+	D/V	PAN2	9924	735
rs149370385	dbSNP_134	56717364	+	R/C	PAN2	9924	731
rs138540208	dbSNP_134	56717596	+	P/S	PAN2	9924	723
rs141605927	dbSNP_134	56717670	+	A/V	PAN2	9924	698
rs1872438	dbSNP_134	56718108	+	I/K	PAN2	9924	633
rs62000382	dbSNP_134	56718109	+	I/V	PAN2	9924	633
rs61937686	dbSNP_134	56718115	+	L/M	PAN2	9924	631
rs146535950	dbSNP_134	56718154	+	R/C	PAN2	9924	618
rs117027379	dbSNP_134	56718381	+	R/H	PAN2	9924	571
rs149754671	dbSNP_134	56718436	+	E/X	PAN2	9924	553
rs147451659	dbSNP_134	56718469	+	R/C	PAN2	9924	542
rs145416458	dbSNP_134	56718847	+	L/F	PAN2	9924	515
rs113409636	dbSNP_134	56718872	+	D/G	PAN2	9924	507
rs149179511	dbSNP_134	56719165	+	R/Q	PAN2	9924	478
rs143826988	dbSNP_134	56719177	+	S/L	PAN2	9924	474
rs142398237	dbSNP_134	56719183	+	T/S	PAN2	9924	472
rs140591449	dbSNP_134	56720180	+	V/M	PAN2	9924	426
rs145905832	dbSNP_134	56720429	+	P/S	PAN2	9924	412
rs138510771	dbSNP_134	56720452	+	T/I	PAN2	9924	404
rs140239422	dbSNP_134	56720465	+	V/I	PAN2	9924	400
rs145299255	dbSNP_134	56720527	+	L/H	PAN2	9924	379
rs11558142	dbSNP_134	56720554	+	R/H	PAN2	9924	370
rs144023820	dbSNP_134	56720687	+	V/M	PAN2	9924	326
rs61761601	dbSNP_134	56721160	+	I/V	PAN2	9924	303
rs148254247	dbSNP_134	56721217	+	H/Y	PAN2	9924	284
rs35892836	dbSNP_134	56721220	+	Q/Q	PAN2	9924	282
rs142863409	dbSNP_134	56721297	+	R/H	PAN2	9924	257
rs147436117	dbSNP_134	56721807	+	F/C	PAN2	9924	208
rs139831098	dbSNP_134	56721843	+	T/M	PAN2	9924	196
rs143838622	dbSNP_134	56722041	+	T/I	PAN2	9924	185
rs1918496	dbSNP_134	56722060	-	L/I	PAN2	9924	179
rs139759050	dbSNP_134	56722093	+	T/A	PAN2	9924	168
rs149805384	dbSNP_134	56722296	+	K/Q	PAN2	9924	138
rs112493243	dbSNP_134	56722421	+	H/R	PAN2	9924	96
rs145797450	dbSNP_134	56726599	+	G/R	PAN2	9924	94
rs148563949	dbSNP_134	56726644	+	S/T	PAN2	9924	79
rs146243692	dbSNP_134	56726647	+	V/I	PAN2	9924	78
rs144463048	dbSNP_134	56726701	+	G/C	PAN2	9924	60
rs11558139	dbSNP_134	56726784	-	S/N	PAN2	9924	32
rs145233794	dbSNP_134	56732869	+	P/L	IL23A	51561	14
rs150940553	dbSNP_134	56733246	+	D/N	IL23A	51561	67
rs150119995	dbSNP_134	56733601	+	G/S	IL23A	51561	130
rs71772333	dbSNP_134	56733619	+	QP/P	IL23A	51561	136
rs146998334	dbSNP_134	56733791	+	R/H	IL23A	51561	158
rs138203083	dbSNP_134	56733844	+	A/T	IL23A	51561	176
rs143765243	dbSNP_134	56737219	+	P/H	STAT2	6773	837
rs77893781	dbSNP_134	56737226	+	S/P	STAT2	6773	835
rs144221064	dbSNP_134	56737244	+	V/M	STAT2	6773	829
rs2229363	dbSNP_134	56737251	-	Q/H	STAT2	6773	826
rs113083644	dbSNP_134	56737255	+	G/D	STAT2	6773	825
rs61754170	dbSNP_134	56737256	+	G/C	STAT2	6773	825
rs139653103	dbSNP_134	56737286	+	I/L	STAT2	6773	815
rs61756199	dbSNP_134	56737615	+	M/V	STAT2	6773	803
rs144395122	dbSNP_134	56737755	+	E/A	STAT2	6773	756
rs56067838	dbSNP_134	56737822	+	S/G	STAT2	6773	734
rs146618392	dbSNP_134	56737846	+	G/R	STAT2	6773	726
rs149859580	dbSNP_134	56737896	+	P/L	STAT2	6773	709
rs113631947	dbSNP_134	56740234	+	Q/R	STAT2	6773	679
rs149037282	dbSNP_134	56740306	+	N/T	STAT2	6773	655
rs112510702	dbSNP_134	56740318	+	L/P	STAT2	6773	651
rs143059589	dbSNP_134	56740375	+	T/M	STAT2	6773	632
rs151170889	dbSNP_134	56740406	+	K/Q	STAT2	6773	622
rs71695128	dbSNP_134	56740410	+		STAT2	6773	621
rs141279456	dbSNP_134	56740626	+	S/F	STAT2	6773	613
rs2066807	dbSNP_134	56740682	-	M/I	STAT2	6773	594
rs138136918	dbSNP_134	56740701	+	R/Q	STAT2	6773	588
rs143700674	dbSNP_134	56742344	+	H/Y	STAT2	6773	565
rs2066809	dbSNP_134	56742782	-	S/I	STAT2	6773	501
rs138681270	dbSNP_134	56742818	+	P/L	STAT2	6773	489
rs149351309	dbSNP_134	56742819	+	P/T	STAT2	6773	489
rs80325067	dbSNP_134	56742994	+	A/S	STAT2	6773	465
rs2066811	dbSNP_134	56742997	-	I/V	STAT2	6773	464
rs34518491	dbSNP_134	56743031	+	P/P	STAT2	6773	452
rs2066815	dbSNP_134	56743044	-	T/M	STAT2	6773	448
rs146115536	dbSNP_134	56743250	+	T/M	STAT2	6773	434
rs142439434	dbSNP_134	56744200	+	Q/E	STAT2	6773	371
rs150908029	dbSNP_134	56744619	+	I/T	STAT2	6773	363
rs139440046	dbSNP_134	56744892	+	V/I	STAT2	6773	342
rs149666262	dbSNP_134	56744927	+	R/Q	STAT2	6773	330
rs147782754	dbSNP_134	56744931	+	H/Y	STAT2	6773	329
rs141205552	dbSNP_134	56745113	+	A/T	STAT2	6773	302
rs66640218	dbSNP_134	56748259	+		STAT2	6773	258
rs137959941	dbSNP_134	56748295	+	C/S	STAT2	6773	246
rs143159503	dbSNP_134	56748338	+	L/M	STAT2	6773	232
rs2066817	dbSNP_134	56748373	-	L/P	STAT2	6773	220
rs142832877	dbSNP_134	56749583	+	F/S	STAT2	6773	97
rs146096134	dbSNP_134	56749926	+	R/P	STAT2	6773	92
rs138926222	dbSNP_134	56749938	+	R/Q	STAT2	6773	88
rs150901100	dbSNP_134	56749951	+	Q/K	STAT2	6773	84
rs2066816	dbSNP_134	56750003	-	Q/H	STAT2	6773	66
rs144812882	dbSNP_134	56750247	+	V/F	STAT2	6773	37
rs4301822	dbSNP_134	56755058	-	I/T	APOF	319	311
rs35567937	dbSNP_134	56755425	+	G/G	APOF	319	188
rs11575216	dbSNP_134	56755457	-	A/G	APOF	319	178
rs74908530	dbSNP_134	56755474	+	E/D	APOF	319	172
rs138128077	dbSNP_134	56755490	+	P/L	APOF	319	167
rs117088942	dbSNP_134	56755652	+	R/H	APOF	319	113
rs142032204	dbSNP_134	56755691	+	C/F	APOF	319	100
rs36058071	dbSNP_134	56755893	+	P/T	APOF	319	33

(Human) GRCh37 - chr12:56351346..56805309 (453.96 kb)  View in Genome Browser

An overview of the region is provided by GBrowse. Tracks shown include gene information and study-specific data:
Immune Disease Associated Variants	Variants shown to be associated with different auto-immune diseases
P-values, -log(p)	1 degree of freedom p-values, stratified by geographic location. Generated using snpMatrix with data from the T1DGC Meta-analysis study.
HapMap Recobination Data	Genome-wide recombination rate from Phase 2 HapMap estimated from phased haplotypes in HapMap Release 22 (NCBI 36). Units are in cM/Mb, coordinates have been projected to the current build.

Genes in LD Region: Available

Summary data derived from GWA meta analysis Barrett et al. LD regions were calculated using different r² and D' threshold values, and these regions were then examined for genes. The definition of a gene location includes a 3kb flanking region either side of the gene.

Marker Data		Region Data					Links
		r2 Threshold	D' Threshold	Region	Genes
Marker rs2292239 Chr 12 Position 56482180 Strand P-Value 2.22e-25		N/A	0.5	chr12: 56364321..56691600	LOC100653008 CDK2 RNF41 MYL6B CS ERBB3 ESYT1 ANKRD52 SLC39A5 MYL6 PA2G4 RAB5B RPL41 RPS26 IKZF4 PMEL SMARCC2 SUOX OBFC2B ZC3H10 COQ10A		LD Region Feature File LD File
		0.4	N/A	chr12: 56369506..56508409	LOC100653008 ERBB3 PA2G4 RAB5B RPS26 IKZF4 SUOX
		0.8	N/A	chr12: 56369506..56482180	ERBB3 RAB5B RPS26 IKZF4 SUOX
		1	N/A	chr12: 56480648..56482180	ERBB3

Publications: 3

• Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
  Barrett JC, Clayton DG, Concannon P, Akolkar B, Cooper JD, Erlich HA, Julier C, Morahan G, Nerup J, Nierras C, Plagnol V, Pociot F, Schuilenburg H, Smyth DJ, Stevens H, Todd JA, Walker NM, Rich SS, The Type 1 Diabetes Genetics Consortium
  Nat Genet. 2009
  PubMed ID: 19430480
   
  
• A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study.
  Hakonarson H, Qu HQ, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Eckert AW, Annaiah K, Lawson ML, Otieno FG, Santa E, Shaner JL, Smith RM, Onyiah CC, Skraban R, Chiavacci RM, Robinson LJ, Stanley CA, Kirsch SE, Devoto M, Monos DS, Grant SF, Polychronakos C
  Diabetes. 2008
  PubMed ID: 18198356
   
  
• Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
  Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V, Bailey R, Nejentsev S, Field SF, Payne F, Lowe CE, Szeszko JS, Hafler JP, Zeitels L, Yang JH, Vella A, Nutland S, Stevens HE, Schuilenburg H, Coleman G, Maisuria M, Meadows W, Smink LJ, Healy B, Burren OS, Lam AA, Ovington NR, Allen J, Adlem E, Leung HT, Wallace C, Howson JM, Guja C, Ionescu-Tîrgovişte C, Genetics of Type 1 Diabetes in Finland, Simmonds MJ, Heward JM, Gough SC, Wellcome Trust Case Control Consortium, Dunger DB, Wicker LS, Clayton DG
  Nat Genet. 2007
  PubMed ID: 17554260
   
  

Signal Clouds: Available

Genotype data for collections is plotted to give a visual sense of the quality of clustering. The two homozygous and the heterozygous genotypes are represented by different colours; a clear separation between the clouds is indicative of good clustering.

Source: ImmunoChip

Source: US NIMH-GAIN Study - 2008

Source: WTCCC

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