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12q24.12

General Information: Available

Organism	Human
Points of Interest	rs3184504
Karyotype Band Location	12q24.12
Chromosomal Location (GRCh37)	Chr12:111287726-113238728
Region Size	1.95 Mb
Orthologous Regions	Mouse: Human 12q24.12 Orthologous Region Rat: Human 12q24.12 Orthologous Region Rat: Human 12q24.12 Orthologous Region
Genes in Region (21)	ACAD10, ALDH2, ATXN2, BRAP, C12orf47, C12orf51, CCDC63, CUX2, ERP29, FAM109A, LOC100131138, MAPKAPK5, MIR1302-1, MYL2, NAA25, PTPN11, RPH3A, RPL6, SH2B3, TMEM116, TRAFD1

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
rs114761668	dbSNP_134	111291236	+	D/N	CCDC63	160762	13
rs145388107	dbSNP_134	111291279	+	A/V	CCDC63	160762	27
rs143432780	dbSNP_134	111291332	+	R/W	CCDC63	160762	45
rs145250758	dbSNP_134	111291339	+	S/F	CCDC63	160762	47
rs147992816	dbSNP_134	111291350	+	R/X	CCDC63	160762	51
rs145824603	dbSNP_134	111296464	+	N/S	CCDC63	160762	85
rs137859782	dbSNP_134	111296493	+	E/K	CCDC63	160762	95
rs115891156	dbSNP_134	111311670	+	A/T	CCDC63	160762	132
rs149075085	dbSNP_134	111311719	+	R/Q	CCDC63	160762	148
rs142788118	dbSNP_134	111317756	+	R/Q	CCDC63	160762	179
rs111256680	dbSNP_134	111317807	+	Y/C	CCDC63	160762	196
rs114129785	dbSNP_134	111317810	+	Q/R	CCDC63	160762	197
rs147414240	dbSNP_134	111317839	+	K/E	CCDC63	160762	207
rs12371434	dbSNP_134	111317855	+	L/S	CCDC63	160762	212
rs75520859	dbSNP_134	111317862	+	I/M	CCDC63	160762	214
rs116190050	dbSNP_134	111317878	+	A/S	CCDC63	160762	220
rs115904738	dbSNP_134	111318957	+	R/H	CCDC63	160762	237
rs148706349	dbSNP_134	111319086	+	A/V	CCDC63	160762	280
rs146807672	dbSNP_134	111321873	+	E/G	CCDC63	160762	298
rs116780136	dbSNP_134	111321905	+	R/W	CCDC63	160762	309
rs140815443	dbSNP_134	111321906	+	R/Q	CCDC63	160762	309
rs151096735	dbSNP_134	111321908	+	L/M	CCDC63	160762	310
rs141094849	dbSNP_134	111321976	+	K/N	CCDC63	160762	332
rs149841694	dbSNP_134	111322002	+	T/M	CCDC63	160762	341
rs141934863	dbSNP_134	111330882	+	D/E	CCDC63	160762	359
rs143128187	dbSNP_134	111330883	+	E/K	CCDC63	160762	360
rs145785956	dbSNP_134	111330904	+	Q/X	CCDC63	160762	367
rs113767208	dbSNP_134	111330922	+	D/N	CCDC63	160762	373
rs116589141	dbSNP_134	111336788	+	G/R	CCDC63	160762	401
rs148044780	dbSNP_134	111336860	+	A/T	CCDC63	160762	425
rs114266945	dbSNP_134	111336918	+	P/L	CCDC63	160762	444
rs138877502	dbSNP_134	111342415	+	D/N	CCDC63	160762	456
rs146312173	dbSNP_134	111342443	+	R/H	CCDC63	160762	465
rs139596933	dbSNP_134	111342490	+	I/L	CCDC63	160762	481
rs116032516	dbSNP_134	111342580	+	D/N	CCDC63	160762	511
rs142416969	dbSNP_134	111342586	+	L/M	CCDC63	160762	513
rs115635364	dbSNP_134	111342595	+	V/M	CCDC63	160762	516
rs73421366	dbSNP_134	111345152	+	H/Y	CCDC63	160762	522
rs144180281	dbSNP_134	111345183	+	N/S	CCDC63	160762	532
rs114173947	dbSNP_134	111345188	+	I/V	CCDC63	160762	534
rs116604830	dbSNP_134	111345219	+	R/L	CCDC63	160762	544
rs141219653	dbSNP_134	111345240	+	K/R	CCDC63	160762	551
rs115122787	dbSNP_134	111345276	+	M/T	CCDC63	160762	563
rs149078011	dbSNP_134	111348923	+	K/N	MYL2	4633	153
rs4683	dbSNP_134	111348964	-	A/T	MYL2	4633	140
rs143139258	dbSNP_134	111350901	+	E/A	MYL2	4633	134
rs141878747	dbSNP_134	111350922	+	A/V	MYL2	4633	127
rs121913658	dbSNP_134	111351120	-	P/A	MYL2	4633	95
rs138254843	dbSNP_134	111352008	+	F/L	MYL2	4633	86
rs35049558	dbSNP_134	111352091	+	R/S	MYL2	4633	58
rs104894369	dbSNP_134	111352091	-	R/Q	MYL2	4633	58
rs2428140	dbSNP_134	111353519	-	G/R	MYL2	4633	57
rs104894368	dbSNP_134	111356937	-	E/K	MYL2	4633	22
rs113167834	dbSNP_134	111356942	+	M/T	MYL2	4633	20
rs104894370	dbSNP_134	111356949	-	F/L	MYL2	4633	18
rs104894363	dbSNP_134	111356964	-	A/T	MYL2	4633	13
rs144303972	dbSNP_134	111731276	+	G/R	CUX2	23316	155
rs148329018	dbSNP_134	111731300	+	R/C	CUX2	23316	163
rs74641910	dbSNP_134	111734318	+	K/E	CUX2	23316	227
rs114719470	dbSNP_134	111758083	+	A/V	CUX2	23316	757
rs111721455	dbSNP_134	111758113	+	F/Y	CUX2	23316	767
rs61745424	dbSNP_134	111785515	+	E/K	CUX2	23316	1283
rs143575822	dbSNP_134	111785776	+	G/R	CUX2	23316	1370
rs147019586	dbSNP_134	111785803	+	S/G	CUX2	23316	1379
rs147161135	dbSNP_134	111785915	+	S/Y	CUX2	23316	1416
rs6490073	dbSNP_134	111786082	+	V/L	CUX2	23316	1472
rs2079772	dbSNP_134	111800522	+	A/D	FAM109A	144717	237
rs2079773	dbSNP_134	111800534	+	Q/P	FAM109A	144717	233
rs3809273	dbSNP_134	111800583	+	G/R	FAM109A	144717	217
rs141906637	dbSNP_134	111800732	+	A/V	FAM109A	144717	167
rs139032867	dbSNP_134	111800826	+		FAM109A	144717	136
rs3840795	dbSNP_134	111800832	+	RGGG/R	FAM109A	144717	131
rs74666539	dbSNP_134	111800832	+		FAM109A	144717	134
rs144801881	dbSNP_134	111800906	+	S/L	FAM109A	144717	109
rs140188004	dbSNP_134	111800967	+	R/C	FAM109A	144717	89
rs145706089	dbSNP_134	111801054	+	V/I	FAM109A	144717	60
rs139405452	dbSNP_134	111801069	+	R/C	FAM109A	144717	55
rs61745698	dbSNP_134	111801138	+	A/T	FAM109A	144717	32
rs73428142	dbSNP_134	111856187	+	R/C	SH2B3	10019	80
rs7963692	dbSNP_134	111856443	+	T/S	SH2B3	10019	165
rs7972796	dbSNP_134	111856493	+	F/L	SH2B3	10019	182
rs78894077	dbSNP_134	111856673	+	P/S	SH2B3	10019	242
rs140392639	dbSNP_134	111884581	+	A/T	SH2B3	10019	253
rs147341899	dbSNP_134	111884594	+	I/T	SH2B3	10019	257
rs3184504	dbSNP_134	111884608	+	W/R	SH2B3	10019	262
rs149554298	dbSNP_134	111884618	+	R/Q	SH2B3	10019	265
rs148319611	dbSNP_134	111884756	+	R/Q	SH2B3	10019	282
rs141493649	dbSNP_134	111884762	+	D/G	SH2B3	10019	284
rs140042617	dbSNP_134	111884828	+	T/K	SH2B3	10019	306
rs143994550	dbSNP_134	111885002	+	S/G	SH2B3	10019	334
rs147318193	dbSNP_134	111885143	+	P/L	SH2B3	10019	344
rs144906877	dbSNP_134	111885292	+	S/G	SH2B3	10019	394
rs148636776	dbSNP_134	111885295	+	E/K	SH2B3	10019	395
rs145017580	dbSNP_134	111885299	+	T/M	SH2B3	10019	396
rs72650673	dbSNP_134	111885310	+	E/K	SH2B3	10019	400
rs146513273	dbSNP_134	111885508	+	L/V	SH2B3	10019	429
rs140899339	dbSNP_134	111885574	+	G/S	SH2B3	10019	451
rs74163667	dbSNP_134	111885580	+	A/T	SH2B3	10019	453
rs74163669	dbSNP_134	111885804	+	L/F	SH2B3	10019	476
rs79819500	dbSNP_134	111885901	+	R/Q	SH2B3	10019	508
rs138410505	dbSNP_134	111885930	+	R/X	SH2B3	10019	518
rs140649197	dbSNP_134	111885984	+	A/T	SH2B3	10019	536
rs74163670	dbSNP_134	111885987	+	N/D	SH2B3	10019	537
rs150476570	dbSNP_134	111885999	+	H/Y	SH2B3	10019	541
rs61734525	dbSNP_134	111886006	+	E/G	SH2B3	10019	543
rs72650662	dbSNP_134	111886074	+	R/W	SH2B3	10019	566
rs148791142	dbSNP_134	111886075	+	R/Q	SH2B3	10019	566
rs139440093	dbSNP_134	111891603	+	A/V	ATXN2	6311	1264
rs146203165	dbSNP_134	111893880	+	V/I	ATXN2	6311	1233
rs146500778	dbSNP_134	111893984	+	L/P	ATXN2	6311	1198
rs77613739	dbSNP_134	111895037	+	P/L	ATXN2	6311	1166
rs79122454	dbSNP_134	111895038	+	P/S	ATXN2	6311	1166
rs149109789	dbSNP_134	111895122	+	A/T	ATXN2	6311	1138
rs35497563	dbSNP_134	111902490	+	E/E	ATXN2	6311	1115
rs35451530	dbSNP_134	111902492	+	E/G	ATXN2	6311	1115
rs140242317	dbSNP_134	111902514	+	P/S	ATXN2	6311	1108
rs151223079	dbSNP_134	111907987	+	T/A	ATXN2	6311	1081
rs113354478	dbSNP_134	111908373	+	Y/H	ATXN2	6311	1058
rs140431447	dbSNP_134	111908403	+	N/D	ATXN2	6311	1048
rs138377485	dbSNP_134	111923591	+	T/P	ATXN2	6311	955
rs142462470	dbSNP_134	111923594	+	P/S	ATXN2	6311	954
rs146752713	dbSNP_134	111923648	+	T/A	ATXN2	6311	936
rs149405676	dbSNP_134	111926377	+	K/E	ATXN2	6311	875
rs148171861	dbSNP_134	111926491	+	E/K	ATXN2	6311	837
rs145903862	dbSNP_134	111926562	+	E/G	ATXN2	6311	813
rs146191693	dbSNP_134	111947776	+	R/G	ATXN2	6311	755
rs139198998	dbSNP_134	111948197	+	S/F	ATXN2	6311	743
rs144066383	dbSNP_134	111948201	+	P/A	ATXN2	6311	742
rs150538953	dbSNP_134	111948246	+	A/T	ATXN2	6311	727
rs149774930	dbSNP_134	111948320	+	P/H	ATXN2	6311	702
rs149725086	dbSNP_134	111948323	+	T/I	ATXN2	6311	701
rs145598979	dbSNP_134	111951235	+	P/L	ATXN2	6311	655
rs148911859	dbSNP_134	111953982	+	M/V	ATXN2	6311	611
rs145810958	dbSNP_134	111956065	+	V/I	ATXN2	6311	545
rs142420643	dbSNP_134	111956224	+	K/E	ATXN2	6311	492
rs117851901	dbSNP_134	111956226	+	N/S	ATXN2	6311	491
rs148325045	dbSNP_134	111957729	+	V/I	ATXN2	6311	474
rs140535192	dbSNP_134	111957777	+	V/M	ATXN2	6311	458
rs150466029	dbSNP_134	111957867	+	R/G	ATXN2	6311	428
rs143112148	dbSNP_134	111963016	+	E/K	ATXN2	6311	386
rs146180830	dbSNP_134	111963027	+	N/S	ATXN2	6311	382
rs137861730	dbSNP_134	111990107	+	M/T	ATXN2	6311	343
rs148642022	dbSNP_134	111993688	+	T/M	ATXN2	6311	256
rs7969300	dbSNP_134	111993712	+	S/N	ATXN2	6311	248
rs7397439	dbSNP_134	112036630	+	V/G	ATXN2	6311	230
rs113876116	dbSNP_134	112036681	+	S/W	ATXN2	6311	213
rs34153028	dbSNP_134	112036684	+		ATXN2	6311	212
rs10560189	dbSNP_134	112036754	+	QP/P	ATXN2	6311	188
rs148968580	dbSNP_134	112036754	+		ATXN2	6311	189
rs3906245	dbSNP_134	112036779	+		ATXN2	6311	180
rs67658094	dbSNP_134	112036779	+		ATXN2	6311	180
rs695871	dbSNP_134	112037000	-	L/V	ATXN2	6311	107
rs150778696	dbSNP_134	112082022	+	R/H	BRAP	8315	587
rs139764163	dbSNP_134	112082110	+	Q/K	BRAP	8315	558
rs145317226	dbSNP_134	112082121	+	R/Q	BRAP	8315	554
rs137950599	dbSNP_134	112082200	+	E/K	BRAP	8315	528
rs140662424	dbSNP_134	112082245	+	R/W	BRAP	8315	513
rs149777018	dbSNP_134	112082301	+	N/T	BRAP	8315	494
rs11541241	dbSNP_134	112082317	-	E/X	BRAP	8315	489
rs118186470	dbSNP_134	112087743	+	K/R	BRAP	8315	472
rs12817909	dbSNP_134	112096607	+	K/I	BRAP	8315	385
rs139027955	dbSNP_134	112097115	+	G/V	BRAP	8315	336
rs78905232	dbSNP_134	112098457	+	Q/K	BRAP	8315	307
rs117767747	dbSNP_134	112103476	+	H/P	BRAP	8315	288
rs76462077	dbSNP_134	112103479	+	F/S	BRAP	8315	287
rs11065998	dbSNP_134	112110467	+	D/Y	BRAP	8315	249
rs150096881	dbSNP_134	112110475	+	K/T	BRAP	8315	246
rs76800978	dbSNP_134	112116963	+	R/C	BRAP	8315	209
rs144542573	dbSNP_134	112117074	+	M/V	BRAP	8315	172
rs143630478	dbSNP_134	112119472	+	V/L	BRAP	8315	138
rs147210846	dbSNP_134	112119475	+	I/V	BRAP	8315	137
rs140623695	dbSNP_134	112119495	+	S/T	BRAP	8315	130
rs151261185	dbSNP_134	112119585	+	A/V	BRAP	8315	100
rs139302752	dbSNP_134	112119612	+	R/K	BRAP	8315	91
rs147705864	dbSNP_134	112121061	+	V/I	BRAP	8315	45
rs146873324	dbSNP_134	112130545	+	R/H	ACAD10	80724	11
rs148699934	dbSNP_134	112130610	+	R/X	ACAD10	80724	33
rs148204415	dbSNP_134	112130611	+	R/Q	ACAD10	80724	33
rs150310415	dbSNP_134	112130659	+	M/R	ACAD10	80724	49
rs143590291	dbSNP_134	112130674	+	I/S	ACAD10	80724	54
rs138927383	dbSNP_134	112140068	+	T/I	ACAD10	80724	97
rs144623113	dbSNP_134	112143554	+	V/M	ACAD10	80724	117
rs148495995	dbSNP_134	112143576	+	S/F	ACAD10	80724	124
rs146082069	dbSNP_134	112143626	+	A/S	ACAD10	80724	141
rs35276160	dbSNP_134	112147397	+	Q/R	ACAD10	80724	200
rs35753710	dbSNP_134	112147444	+	T/P	ACAD10	80724	216
rs148269182	dbSNP_134	112147454	+	K/R	ACAD10	80724	219
rs150051004	dbSNP_134	112150365	+	G/C	ACAD10	80724	252
rs145407775	dbSNP_134	112150408	+	P/L	ACAD10	80724	266
rs148815703	dbSNP_134	112150446	+	G/R	ACAD10	80724	279
rs137994931	dbSNP_134	112153628	+	P/R	ACAD10	80724	285
rs150790771	dbSNP_134	112159524	+	D/N	ACAD10	80724	348
rs138876094	dbSNP_134	112165844	+		ACAD10	80724	380
rs140075311	dbSNP_134	112165863	+	I/V	ACAD10	80724	387
rs11066013	dbSNP_134	112165911	+	L/V	ACAD10	80724	403
rs143739010	dbSNP_134	112165941	+	K/Q	ACAD10	80724	413
rs146335507	dbSNP_134	112167654	+	R/X	ACAD10	80724	430
rs148547215	dbSNP_134	112167699	+	E/K	ACAD10	80724	445
rs151106801	dbSNP_134	112167715	+	H/R	ACAD10	80724	450
rs141115291	dbSNP_134	112167732	+	R/G	ACAD10	80724	456
rs36046440	dbSNP_134	112167753	+	D/N	ACAD10	80724	463
rs141973586	dbSNP_134	112171737	+	L/V	ACAD10	80724	469
rs148867702	dbSNP_134	112174732	+	N/K	ACAD10	80724	546
rs34912642	dbSNP_134	112174764	+	R/H	ACAD10	80724	557
rs35716113	dbSNP_134	112174773	+	A/G	ACAD10	80724	560
rs147227815	dbSNP_134	112182465	+	Y/C	ACAD10	80724	578
rs142709066	dbSNP_134	112182563	+	T/A	ACAD10	80724	611
rs138790472	dbSNP_134	112182585	+	Y/C	ACAD10	80724	618
rs141959148	dbSNP_134	112182609	+	S/F	ACAD10	80724	626
rs112401787	dbSNP_134	112182612	+	Q/L	ACAD10	80724	627
rs139313175	dbSNP_134	112182647	+	V/I	ACAD10	80724	639
rs149610201	dbSNP_134	112182692	+	I/V	ACAD10	80724	654
rs34486571	dbSNP_134	112182710	+	S/P	ACAD10	80724	660
rs144351777	dbSNP_134	112182714	+	P/L	ACAD10	80724	661
rs148795385	dbSNP_134	112182751	+	F/L	ACAD10	80724	673
rs144887834	dbSNP_134	112182820	+	S/R	ACAD10	80724	696
rs147958599	dbSNP_134	112182836	+	E/K	ACAD10	80724	702
rs144218728	dbSNP_134	112184027	+	L/P	ACAD10	80724	732
rs151165360	dbSNP_134	112184033	+	N/S	ACAD10	80724	734
rs150349412	dbSNP_134	112184086	+	E/K	ACAD10	80724	752
rs143862876	dbSNP_134	112184865	+	S/P	ACAD10	80724	757
rs138769725	dbSNP_134	112185123	+	I/V	ACAD10	80724	807
rs141918583	dbSNP_134	112185166	+	N/I	ACAD10	80724	821
rs143673663	dbSNP_134	112185168	+	G/S	ACAD10	80724	822
rs148107230	dbSNP_134	112186148	+	C/F	ACAD10	80724	838
rs141914437	dbSNP_134	112186189	+	R/W	ACAD10	80724	852
rs150643910	dbSNP_134	112186253	+	T/M	ACAD10	80724	873
rs34245489	dbSNP_134	112186274	+	A/V	ACAD10	80724	880
rs143237254	dbSNP_134	112186279	+	G/R	ACAD10	80724	882
rs147418170	dbSNP_134	112186982	+	H/Y	ACAD10	80724	884
rs138044386	dbSNP_134	112187025	+	N/S	ACAD10	80724	898
rs34650888	dbSNP_134	112187070	+	R/M	ACAD10	80724	913
rs144180377	dbSNP_134	112187120	+	E/X	ACAD10	80724	930
rs145484987	dbSNP_134	112187138	+	M/V	ACAD10	80724	936
rs149500655	dbSNP_134	112187140	+	M/I	ACAD10	80724	936
rs75655687	dbSNP_134	112187148	+	R/L	ACAD10	80724	939
rs143391323	dbSNP_134	112191580	+	K/T	ACAD10	80724	941
rs146750873	dbSNP_134	112191640	+	A/V	ACAD10	80724	961
rs138121268	dbSNP_134	112191648	+	R/C	ACAD10	80724	964
rs80294185	dbSNP_134	112191669	+	R/W	ACAD10	80724	971
rs143276470	dbSNP_134	112191718	+	K/T	ACAD10	80724	987
rs139160341	dbSNP_134	112193518	+	M/T	ACAD10	80724	1003
rs115809570	dbSNP_134	112193526	+	R/X	ACAD10	80724	1006
rs147517775	dbSNP_134	112194146	+	A/T	ACAD10	80724	1017
rs138539307	dbSNP_134	112194197	+	R/X	ACAD10	80724	1034
rs142030532	dbSNP_134	112194215	+	D/N	ACAD10	80724	1040
rs75289932	dbSNP_134	112194237	+	R/Q	ACAD10	80724	1047
rs149884150	dbSNP_134	112194243	+	T/M	ACAD10	80724	1049
rs143923867	dbSNP_134	112194259	+	E/D	ACAD10	80724	1054
rs1064903	dbSNP_134	112204824	+	G/A	ALDH2	217	13
rs141574314	dbSNP_134	112219728	+	I/V	ALDH2	217	41
rs143350866	dbSNP_134	112219752	+	V/F	ALDH2	217	49
rs140347209	dbSNP_134	112220981	+	V/A	ALDH2	217	80
rs140919090	dbSNP_134	112221025	+	R/C	ALDH2	217	95
rs150202179	dbSNP_134	112221049	+	R/W	ALDH2	217	103
rs141696414	dbSNP_134	112221062	+	R/L	ALDH2	217	107
rs147086207	dbSNP_134	112221070	+	D/H	ALDH2	217	110
rs141373324	dbSNP_134	112223130	+	D/E	ALDH2	217	140
rs141629803	dbSNP_134	112227634	+	A/T	ALDH2	217	150
rs144375294	dbSNP_134	112227679	+	G/R	ALDH2	217	165
rs111540940	dbSNP_134	112229177	+	A/V	ALDH2	217	250
rs139133423	dbSNP_134	112229898	+	S/G	ALDH2	217	277
rs71445558	dbSNP_134	112229908	+	K/K	ALDH2	217	280
rs145077856	dbSNP_134	112229928	+	G/W	ALDH2	217	287
rs148698157	dbSNP_134	112229962	+	A/D	ALDH2	217	298
rs142271678	dbSNP_134	112229964	+	D/N	ALDH2	217	299
rs1062136	dbSNP_134	112230513	+	E/V	ALDH2	217	337
rs147698998	dbSNP_134	112230543	+	V/A	ALDH2	217	347
rs150253385	dbSNP_134	112235938	+	E/D	ALDH2	217	380
rs149442966	dbSNP_134	112235996	+	P/S	ALDH2	217	400
rs144598865	dbSNP_134	112237752	+	E/K	ALDH2	217	431
rs671	dbSNP_134	112241766	+	E/K	ALDH2	217	504
rs146929382	dbSNP_134	112280545	+	E/V	MAPKAPK5	8550	3
rs34132040	dbSNP_134	112305390	+	M/I	MAPKAPK5	8550	67
rs36073103	dbSNP_134	112305424	+	I/Y	MAPKAPK5	8550	79
rs74739940	dbSNP_134	112321510	+	S/R	MAPKAPK5	8550	262
rs34843470	dbSNP_134	112321569	+	R/K	MAPKAPK5	8550	282
rs80319832	dbSNP_134	112326323	+	A/V	MAPKAPK5	8550	334
rs71791193	dbSNP_134	112326422	+		MAPKAPK5	8550	367
rs150495619	dbSNP_134	112330774	+	R/H	MAPKAPK5	8550	442
rs148439044	dbSNP_134	112369479	+	L/F	TMEM116	89894	285
rs147550432	dbSNP_134	112369505	+	Q/K	TMEM116	89894	277
rs141724043	dbSNP_134	112369511	+	C/S	TMEM116	89894	275
rs113902987	dbSNP_134	112369576	+	Q/R	TMEM116	89894	253
rs144475691	dbSNP_134	112369594	+	G/A	TMEM116	89894	247
rs147850807	dbSNP_134	112370406	+	A/G	TMEM116	89894	229
rs146086311	dbSNP_134	112370419	+	K/E	TMEM116	89894	225
rs145360299	dbSNP_134	112370461	+	V/F	TMEM116	89894	211
rs147689468	dbSNP_134	112371748	+	H/Q	TMEM116	89894	190
rs149171663	dbSNP_134	112371786	+	T/A	TMEM116	89894	178
rs3752630	dbSNP_134	112375990	+	C/G	TMEM116	89894	79
rs141517360	dbSNP_134	112451294	+	A/S	ERP29	10961	9
rs137981237	dbSNP_134	112451393	+	D/Y	ERP29	10961	42
rs149494744	dbSNP_134	112451394	+	D/A	ERP29	10961	42
rs143957874	dbSNP_134	112451396	+	T/A	ERP29	10961	43
rs150626602	dbSNP_134	112459956	+	Y/D	ERP29	10961	96
rs146674309	dbSNP_134	112460028	+	L/F	ERP29	10961	120
rs149787238	dbSNP_134	112460110	+	G/E	ERP29	10961	147
rs145773903	dbSNP_134	112460116	+	G/A	ERP29	10961	149
rs34441328	dbSNP_134	112460195	+	E/D	ERP29	10961	175
rs145232105	dbSNP_134	112460196	+	A/S	ERP29	10961	176
rs147970597	dbSNP_134	112460215	+	K/R	ERP29	10961	182
rs140712353	dbSNP_134	112460322	+	A/T	ERP29	10961	218
rs147412255	dbSNP_134	112471062	+	I/T	NAA25	80018	924
rs12298022	dbSNP_134	112471090	+	L/I	NAA25	80018	915
rs12231744	dbSNP_134	112477055	+	K/R	NAA25	80018	876
rs144150313	dbSNP_134	112477110	+	C/G	NAA25	80018	858
rs78983078	dbSNP_134	112478316	+	T/I	NAA25	80018	836
rs34795775	dbSNP_134	112478325	+	T/N	NAA25	80018	833
rs142281598	dbSNP_134	112478335	+	N/D	NAA25	80018	830
rs150847601	dbSNP_134	112478359	+	D/Y	NAA25	80018	822
rs139641115	dbSNP_134	112478374	+	S/G	NAA25	80018	817
rs145000175	dbSNP_134	112480924	+	N/S	NAA25	80018	781
rs116838734	dbSNP_134	112481496	+	R/H	NAA25	80018	728
rs79907395	dbSNP_134	112481511	+	R/Q	NAA25	80018	723
rs141355473	dbSNP_134	112481658	+	E/G	NAA25	80018	674
rs145877943	dbSNP_134	112485563	+	M/V	NAA25	80018	638
rs149023600	dbSNP_134	112486097	+	I/V	NAA25	80018	627
rs141275124	dbSNP_134	112486216	+	Y/C	NAA25	80018	587
rs146981092	dbSNP_134	112486235	+	I/V	NAA25	80018	581
rs150580297	dbSNP_134	112498100	+	A/V	NAA25	80018	474
rs113256936	dbSNP_134	112499033	+	S/G	NAA25	80018	437
rs16941860	dbSNP_134	112499064	+	L/F	NAA25	80018	426
rs149344901	dbSNP_134	112506764	+	K/E	NAA25	80018	357
rs150077724	dbSNP_134	112512521	+	R/Q	NAA25	80018	275
rs140115954	dbSNP_134	112518929	+	A/T	NAA25	80018	138
rs142411607	dbSNP_134	112525557	+	N/S	NAA25	80018	111
rs114424198	dbSNP_134	112525594	+	T/A	NAA25	80018	99
rs149665047	dbSNP_134	112572637	+	K/R	TRAFD1	10906	48
rs147782156	dbSNP_134	112572660	+	A/T	TRAFD1	10906	56
rs75003923	dbSNP_134	112572856	+	L/V	TRAFD1	10906	75
rs141135769	dbSNP_134	112578719	+	R/W	TRAFD1	10906	112
rs147594088	dbSNP_134	112578785	+	V/F	TRAFD1	10906	134
rs149081968	dbSNP_134	112578799	+	E/D	TRAFD1	10906	138
rs114172135	dbSNP_134	112578821	+	V/I	TRAFD1	10906	146
rs148272299	dbSNP_134	112578926	+	L/M	TRAFD1	10906	181
rs113339178	dbSNP_134	112578933	+	R/Q	TRAFD1	10906	183
rs61743643	dbSNP_134	112579920	+	N/S	TRAFD1	10906	224
rs138174173	dbSNP_134	112579998	+	N/S	TRAFD1	10906	250
rs77125209	dbSNP_134	112580017	+	S/R	TRAFD1	10906	256
rs140094553	dbSNP_134	112580041	+	R/S	TRAFD1	10906	264
rs115306073	dbSNP_134	112580057	+	D/N	TRAFD1	10906	270
rs114577048	dbSNP_134	112580072	+	G/S	TRAFD1	10906	275
rs79680080	dbSNP_134	112583447	+	E/A	TRAFD1	10906	303
rs148582645	dbSNP_134	112585950	+	P/T	TRAFD1	10906	334
rs138453307	dbSNP_134	112585965	+	Q/X	TRAFD1	10906	339
rs113790376	dbSNP_134	112585975	+	L/S	TRAFD1	10906	342
rs142954248	dbSNP_134	112586091	+	V/L	TRAFD1	10906	381
rs147745928	dbSNP_134	112589629	+	D/G	TRAFD1	10906	435
rs139423447	dbSNP_134	112589671	+	L/Q	TRAFD1	10906	449
rs145065325	dbSNP_134	112589679	+	S/G	TRAFD1	10906	452
rs140801956	dbSNP_134	112589839	+	A/V	TRAFD1	10906	505
rs115008525	dbSNP_134	112589937	+	G/R	TRAFD1	10906	538
rs150138091	dbSNP_134	112590254	+	N/T	TRAFD1	10906	548
rs145546036	dbSNP_134	112590278	+	A/V	TRAFD1	10906	556
rs140512643	dbSNP_134	112590284	+	Y/C	TRAFD1	10906	558
rs114214054	dbSNP_134	112590546	+	P/H	TRAFD1	10906	567
rs148878247	dbSNP_134	112590591	+	E/G	TRAFD1	10906	582
rs79649813	dbSNP_134	112605127	+	F/L	C12orf51	283450	4004
rs61999311	dbSNP_134	112610487	+	A/T	C12orf51	283450	3753
rs34705680	dbSNP_134	112616759	+	D/X	C12orf51	283450	3608
rs145041031	dbSNP_134	112617093	+	S/F	C12orf51	283450	3527
rs35582888	dbSNP_134	112617184	+	P/P	C12orf51	283450	3496
rs151014114	dbSNP_134	112622020	+	R/C	C12orf51	283450	3412
rs61732694	dbSNP_134	112622898	+	S/X	C12orf51	283450	3119
rs151280588	dbSNP_134	112628625	+	P/L	C12orf51	283450	2974
rs36115582	dbSNP_134	112628727	+	L/P	C12orf51	283450	2940
rs77503398	dbSNP_134	112630895	+	C/F	C12orf51	283450	2847
rs142971970	dbSNP_134	112642418	+	D/V	C12orf51	283450	2542
rs5800940	dbSNP_134	112645687	+	A/A	C12orf51	283450	2535
rs34820191	dbSNP_134	112645689	+	A/R	C12orf51	283450	2535
rs151140008	dbSNP_134	112654688	+	Y/F	C12orf51	283450	2253
rs111425096	dbSNP_134	112654911	+	L/P	C12orf51	283450	2216
rs141163497	dbSNP_134	112666048	+	H/Q	C12orf51	283450	2061
rs143537343	dbSNP_134	112667578	+	I/T	C12orf51	283450	1976
rs58871293	dbSNP_134	112668513	+	I/K	C12orf51	283450	1933
rs111790702	dbSNP_134	112673047	+	T/S	C12orf51	283450	1745
rs35900906	dbSNP_134	112677742	+	R/T	C12orf51	283450	1511
rs61941332	dbSNP_134	112681251	+	V/M	C12orf51	283450	1450
rs145533298	dbSNP_134	112688054	+	V/L	C12orf51	283450	1110
rs5800941	dbSNP_134	112688065	+	L/P	C12orf51	283450	1106
rs35742291	dbSNP_134	112688067	+	V/A	C12orf51	283450	1105
rs142746357	dbSNP_134	112688093	+	R/G	C12orf51	283450	1097
rs148323462	dbSNP_134	112688153	+	V/M	C12orf51	283450	1077
rs141488409	dbSNP_134	112688793	+	R/Q	C12orf51	283450	1061
rs114104180	dbSNP_134	112688831	+	E/D	C12orf51	283450	1048
rs74516349	dbSNP_134	112691889	+	S/R	C12orf51	283450	953
rs11066214	dbSNP_134	112691947	+	P/L	C12orf51	283450	934
rs149620143	dbSNP_134	112696326	+	Q/H	C12orf51	283450	852
rs141051796	dbSNP_134	112696994	+	M/I	C12orf51	283450	801
rs141477684	dbSNP_134	112699118	+	R/H	C12orf51	283450	773
rs147151024	dbSNP_134	112699127	+	I/T	C12orf51	283450	770
rs113073679	dbSNP_134	112701896	+	K/E	C12orf51	283450	732
rs148614297	dbSNP_134	112702980	+	P/R	C12orf51	283450	691
rs151175854	dbSNP_134	112703752	+	V/M	C12orf51	283450	628
rs140264125	dbSNP_134	112707598	+	R/Q	C12orf51	283450	562
rs145882492	dbSNP_134	112707610	+	R/Q	C12orf51	283450	558
rs144116378	dbSNP_134	112708042	+	V/I	C12orf51	283450	540
rs112942603	dbSNP_134	112721081	+	N/S	C12orf51	283450	310
rs145208074	dbSNP_134	112744020	+	M/V	C12orf51	283450	251
rs141161168	dbSNP_134	112843105	+	I/V	RPL6	6128	264
rs144975352	dbSNP_134	112843149	+	D/G	RPL6	6128	249
rs138678598	dbSNP_134	112843167	+	T/M	RPL6	6128	243
rs16942044	dbSNP_134	112843662	+	K/E	RPL6	6128	237
rs17851813	dbSNP_134	112843691	+	H/R	RPL6	6128	227
rs148929822	dbSNP_134	112843710	+	K/Q	RPL6	6128	221
rs143694785	dbSNP_134	112843738	+	H/Q	RPL6	6128	211
rs12046	dbSNP_134	112843760	-	S/I	RPL6	6128	204
rs11546780	dbSNP_134	112843784	-	A/V	RPL6	6128	196
rs11981	dbSNP_134	112844106	-	L/P	RPL6	6128	174
rs139339326	dbSNP_134	112844603	+	S/T	RPL6	6128	143
rs149731918	dbSNP_134	112844609	+	R/Q	RPL6	6128	141
rs143273976	dbSNP_134	112844614	+	K/N	RPL6	6128	139
rs17856609	dbSNP_134	112844686	+	Y/X	RPL6	6128	115
rs17856610	dbSNP_134	112846109	+	T/A	RPL6	6128	91
rs139449403	dbSNP_134	112846111	+	A/V	RPL6	6128	90
rs17856608	dbSNP_134	112846254	+	Y/X	RPL6	6128	69
rs149671197	dbSNP_134	112846267	+	R/K	RPL6	6128	65
rs144488475	dbSNP_134	112846279	+	A/V	RPL6	6128	61
rs17852010	dbSNP_134	112846301	+	I/V	RPL6	6128	54
rs17852868	dbSNP_134	112846408	+	A/V	RPL6	6128	18
rs17852009	dbSNP_134	112846417	+	K/R	RPL6	6128	15
rs148436123	dbSNP_134	112846424	+	E/K	RPL6	6128	13
rs79203122	dbSNP_134	112884083	+	W/C	PTPN11	5781	6
rs121918471	dbSNP_134	112888162	+	GD/D	PTPN11	5781	60
rs80338836	dbSNP_134	112888163	+	GD/D	PTPN11	5781	60
rs121918461	dbSNP_134	112888166	+	D/G	PTPN11	5781	61
rs121918460	dbSNP_134	112888168	+	Y/D	PTPN11	5781	62
rs121918459	dbSNP_134	112888172	+	Y/C	PTPN11	5781	63
rs121918453	dbSNP_134	112888198	+	A/S	PTPN11	5781	72
rs121918454	dbSNP_134	112888199	+	A/G	PTPN11	5781	72
rs121918462	dbSNP_134	112888202	+	T/I	PTPN11	5781	73
rs121918464	dbSNP_134	112888210	+	E/K	PTPN11	5781	76
rs121918465	dbSNP_134	112888211	+	E/A	PTPN11	5781	76
rs121918466	dbSNP_134	112888220	+	Q/R	PTPN11	5781	79
rs143433437	dbSNP_134	112892398	+	R/W	PTPN11	5781	186
rs79068130	dbSNP_134	112892407	+	S/A	PTPN11	5781	189
rs76982592	dbSNP_134	112892433	-	Y/X	PTPN11	5781	197
rs121918456	dbSNP_134	112910827	+	Y/C	PTPN11	5781	279
rs121918463	dbSNP_134	112915455	+	F/S	PTPN11	5781	285
rs117730996	dbSNP_134	112915480	+	H/Q	PTPN11	5781	293
rs28933386	dbSNP_134	112915523	+	N/D	PTPN11	5781	308
rs121918455	dbSNP_134	112915524	+	N/S	PTPN11	5781	308
rs146571700	dbSNP_134	112915775	+	S/A	PTPN11	5781	350
rs41299183	dbSNP_134	112919909	+	Y/C	PTPN11	5781	375
rs121918467	dbSNP_134	112924286	+	T/M	PTPN11	5781	411
rs121918468	dbSNP_134	112926248	+	A/T	PTPN11	5781	461
rs121918469	dbSNP_134	112926258	+	G/A	PTPN11	5781	464
rs121918457	dbSNP_134	112926270	+	T/M	PTPN11	5781	468
rs121918458	dbSNP_134	112926884	+	S/T	PTPN11	5781	502
rs121918470	dbSNP_134	112926909	+	Q/P	PTPN11	5781	510
rs148176616	dbSNP_134	112940006	+	T/M	PTPN11	5781	553
rs141140214	dbSNP_134	112940030	+	P/L	PTPN11	5781	561
rs150730493	dbSNP_134	112940045	+	T/M	PTPN11	5781	566

(Human) GRCh37 - chr12:111287726..113238728 (1.95 Mb)  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 rs3184504 Chr 12 Position 111884608 Strand P-Value 2.78e-27		N/A	0.5	chr12: 111281636..112883476	LOC100131138 SH2B3 MIR3657 TRAFD1 ERP29 FAM109A CCDC63 ALDH2 CUX2 C12orf51 MYL2 C12orf47 PTPN11 RPL6 ATXN2 NAA25 ACAD10 BRAP MAPKAPK5 ADAM1 TMEM116		LD Region Feature File LD File
		0.4	N/A	chr12: 111708458..112883476	SH2B3 MIR3657 TRAFD1 ERP29 FAM109A ALDH2 CUX2 C12orf51 C12orf47 PTPN11 RPL6 ATXN2 NAA25 ACAD10 BRAP MAPKAPK5 ADAM1 TMEM116
		0.8	N/A	chr12: 111833788..112007756	SH2B3 ATXN2
		1	N/A	chr12: 111884608..112007756	SH2B3 ATXN2

Publications: 5

• Multiple common variants for celiac disease influencing immune gene expression.
  Dubois PC, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A, Zhernakova A, Heap GA, Adány R, Aromaa A, Bardella MT, van den Berg LH, Bockett NA, de la Concha EG, Dema B, Fehrmann RS, Fernández-Arquero M, Fiatal S, Grandone E, Green PM, Groen HJ, Gwilliam R, Houwen RH, Hunt SE, Kaukinen K, Kelleher D, Korponay-Szabo I, Kurppa K, MacMathuna P, Mäki M, Mazzilli MC, McCann OT, Mearin ML, Mein CA, Mirza MM, Mistry V, Mora B, Morley KI, Mulder CJ, Murray JA, Núñez C, Oosterom E, Ophoff RA, Polanco I, Peltonen L, Platteel M, Rybak A, Salomaa V, Schweizer JJ, Sperandeo MP, Tack GJ, Turner G, Veldink JH, Verbeek WH, Weersma RK, Wolters VM, Urcelay E, Cukrowska B, Greco L, Neuhausen SL, McManus R, Barisani D, Deloukas P, Barrett JC, Saavalainen P, Wijmenga C, van Heel DA
  Nat Genet. 2010
  PubMed ID: 20190752
   
  
• 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
   
  
• The expanding genetic overlap between multiple sclerosis and type I diabetes.
  International Multiple Sclerosis Genetics Consortium (IMSGC)
  Genes Immun. 2009
  PubMed ID: 18987646
   
  
• Shared and distinct genetic variants in type 1 diabetes and celiac disease.
  Smyth DJ, Plagnol V, Walker NM, Cooper JD, Downes K, Yang JH, Howson JM, Stevens H, McManus R, Wijmenga C, Heap GA, Dubois PC, Clayton DG, Hunt KA, van Heel DA, Todd JA
  N Engl J Med. 2008
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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: T1DGC 4K-4K Study - 2008

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