1p13.2
General Information: Available
| Organism | Human |
| Points of Interest | rs2476601 |
| Karyotype Band Location | 1p13.2 |
| Chromosomal Location (GRCh37) | Chr1:113818477-114658477 |
| Region Size | 0.84 Mb |
| Orthologous Regions |
Mouse: Human 1p13.2 Orthologous Region Rat: Human 1p13.2 Orthologous Region |
| Genes in Region (11) | AP4B1, BCL2L15, DCLRE1B, HIPK1, LOC100287722, MAGI3, OLFML3, PHTF1, PTPN22, RSBN1, SYT6 |
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 |
|---|---|---|---|---|---|---|---|
| rs143845236 | dbSNP_134 | 113933933 | + | H/R | MAGI3 | 260425 | 93 |
| rs150051428 | dbSNP_134 | 114128125 | + | T/S | MAGI3 | 260425 | 224 |
| rs146330033 | dbSNP_134 | 114128161 | + | L/V | MAGI3 | 260425 | 236 |
| rs148694155 | dbSNP_134 | 114128186 | + | D/V | MAGI3 | 260425 | 244 |
| rs149597924 | dbSNP_134 | 114133195 | + | Y/H | MAGI3 | 260425 | 285 |
| rs145176805 | dbSNP_134 | 114133198 | + | M/V | MAGI3 | 260425 | 286 |
| rs77976861 | dbSNP_134 | 114157241 | + | E/G | MAGI3 | 260425 | 346 |
| rs41283512 | dbSNP_134 | 114165485 | + | R/Q | MAGI3 | 260425 | 410 |
| rs145442738 | dbSNP_134 | 114165506 | + | T/I | MAGI3 | 260425 | 417 |
| rs148115675 | dbSNP_134 | 114184682 | + | V/I | MAGI3 | 260425 | 504 |
| rs150620203 | dbSNP_134 | 114184692 | + | I/T | MAGI3 | 260425 | 507 |
| rs142925500 | dbSNP_134 | 114184716 | + | N/S | MAGI3 | 260425 | 515 |
| rs149386339 | dbSNP_134 | 114184827 | + | G/D | MAGI3 | 260425 | 552 |
| rs140227167 | dbSNP_134 | 114185096 | + | F/L | MAGI3 | 260425 | 642 |
| rs146878815 | dbSNP_134 | 114186368 | + | P/L | MAGI3 | 260425 | 657 |
| rs149171641 | dbSNP_134 | 114189198 | + | S/P | MAGI3 | 260425 | 697 |
| rs142998380 | dbSNP_134 | 114193691 | + | R/H | MAGI3 | 260425 | 768 |
| rs143698690 | dbSNP_134 | 114196521 | + | R/Q | MAGI3 | 260425 | 837 |
| rs144491494 | dbSNP_134 | 114196553 | + | E/K | MAGI3 | 260425 | 848 |
| rs141038054 | dbSNP_134 | 114201801 | + | S/F | MAGI3 | 260425 | 910 |
| rs150230904 | dbSNP_134 | 114214359 | + | H/L | MAGI3 | 260425 | 940 |
| rs141608933 | dbSNP_134 | 114214370 | + | P/S | MAGI3 | 260425 | 944 |
| rs138270035 | dbSNP_134 | 114214371 | + | P/L | MAGI3 | 260425 | 944 |
| rs115953359 | dbSNP_134 | 114214380 | + | T/I | MAGI3 | 260425 | 947 |
| rs141257481 | dbSNP_134 | 114214442 | + | H/N | MAGI3 | 260425 | 968 |
| rs145947128 | dbSNP_134 | 114215353 | + | R/Q | MAGI3 | 260425 | 1012 |
| rs150071766 | dbSNP_134 | 114223955 | + | H/Y | MAGI3 | 260425 | 1109 |
| rs142409909 | dbSNP_134 | 114224848 | + | G/S | MAGI3 | 260425 | 1115 |
| rs72990405 | dbSNP_134 | 114224861 | + | Y/S | MAGI3 | 260425 | 1119 |
| rs141671759 | dbSNP_134 | 114224863 | + | V/M | MAGI3 | 260425 | 1120 |
| rs138648427 | dbSNP_134 | 114243565 | + | Q/X | PHTF1 | 10745 | 633 |
| rs145476172 | dbSNP_134 | 114248568 | + | C/R | PHTF1 | 10745 | 539 |
| rs1141014 | dbSNP_134 | 114248597 | - | L/W | PHTF1 | 10745 | 529 |
| rs145965579 | dbSNP_134 | 114248625 | + | A/S | PHTF1 | 10745 | 520 |
| rs148623704 | dbSNP_134 | 114248690 | + | R/H | PHTF1 | 10745 | 498 |
| rs140005268 | dbSNP_134 | 114248691 | + | R/C | PHTF1 | 10745 | 498 |
| rs79135507 | dbSNP_134 | 114248712 | + | P/T | PHTF1 | 10745 | 491 |
| rs147938311 | dbSNP_134 | 114248714 | + | F/S | PHTF1 | 10745 | 490 |
| rs140067418 | dbSNP_134 | 114248774 | + | Y/F | PHTF1 | 10745 | 470 |
| rs147693102 | dbSNP_134 | 114248781 | + | N/Y | PHTF1 | 10745 | 468 |
| rs145541451 | dbSNP_134 | 114249302 | + | R/X | PHTF1 | 10745 | 438 |
| rs36076018 | dbSNP_134 | 114253006 | + | D/R | PHTF1 | 10745 | 380 |
| rs148397701 | dbSNP_134 | 114253027 | + | R/H | PHTF1 | 10745 | 373 |
| rs147533901 | dbSNP_134 | 114254433 | + | C/G | PHTF1 | 10745 | 328 |
| rs145726957 | dbSNP_134 | 114255952 | + | M/I | PHTF1 | 10745 | 244 |
| rs61730007 | dbSNP_134 | 114255975 | + | Q/K | PHTF1 | 10745 | 237 |
| rs79904100 | dbSNP_134 | 114267402 | + | W/L | PHTF1 | 10745 | 201 |
| rs61817585 | dbSNP_134 | 114269049 | + | R/L | PHTF1 | 10745 | 160 |
| rs143415786 | dbSNP_134 | 114269077 | + | T/S | PHTF1 | 10745 | 151 |
| rs138550041 | dbSNP_134 | 114269154 | + | I/R | PHTF1 | 10745 | 125 |
| rs35311195 | dbSNP_134 | 114269155 | + | I/V | PHTF1 | 10745 | 125 |
| rs111490062 | dbSNP_134 | 114280797 | + | N/S | PHTF1 | 10745 | 89 |
| rs78000844 | dbSNP_134 | 114280825 | + | R/X | PHTF1 | 10745 | 80 |
| rs146537741 | dbSNP_134 | 114280839 | + | R/Q | PHTF1 | 10745 | 75 |
| rs148874264 | dbSNP_134 | 114300376 | + | I/T | PHTF1 | 10745 | 16 |
| rs77659803 | dbSNP_134 | 114301286 | + | K/E | PHTF1 | 10745 | 14 |
| rs3211282 | dbSNP_134 | 114308609 | - | S/Y | RSBN1 | 54665 | 801 |
| rs138634440 | dbSNP_134 | 114308706 | + | Q/X | RSBN1 | 54665 | 769 |
| rs149404041 | dbSNP_134 | 114308772 | + | C/R | RSBN1 | 54665 | 747 |
| rs139632000 | dbSNP_134 | 114308844 | + | G/R | RSBN1 | 54665 | 723 |
| rs145591703 | dbSNP_134 | 114310875 | + | RSBN1 | 54665 | 599 | |
| rs34462362 | dbSNP_134 | 114319962 | + | P/P | RSBN1 | 54665 | 509 |
| rs145853951 | dbSNP_134 | 114340206 | + | M/V | RSBN1 | 54665 | 386 |
| rs141121877 | dbSNP_134 | 114340340 | + | Q/R | RSBN1 | 54665 | 341 |
| rs150462475 | dbSNP_134 | 114340423 | + | K/N | RSBN1 | 54665 | 313 |
| rs41283514 | dbSNP_134 | 114340502 | + | R/H | RSBN1 | 54665 | 287 |
| rs140048385 | dbSNP_134 | 114340551 | + | L/F | RSBN1 | 54665 | 271 |
| rs144657133 | dbSNP_134 | 114354338 | + | K/E | RSBN1 | 54665 | 233 |
| rs142666867 | dbSNP_134 | 114354364 | + | G/A | RSBN1 | 54665 | 224 |
| rs116046617 | dbSNP_134 | 114354496 | + | A/V | RSBN1 | 54665 | 180 |
| rs150300706 | dbSNP_134 | 114354551 | + | L/V | RSBN1 | 54665 | 162 |
| rs138448231 | dbSNP_134 | 114354809 | + | P/S | RSBN1 | 54665 | 76 |
| rs113435991 | dbSNP_134 | 114354812 | + | K/E | RSBN1 | 54665 | 75 |
| rs139244607 | dbSNP_134 | 114354932 | + | G/R | RSBN1 | 54665 | 35 |
| rs41313296 | dbSNP_134 | 114362225 | + | N/I | PTPN22 | 26191 | 778 |
| rs140698521 | dbSNP_134 | 114367793 | + | S/N | PTPN22 | 26191 | 751 |
| rs56048322 | dbSNP_134 | 114372214 | - | K/N | PTPN22 | 26191 | 750 |
| rs74163663 | dbSNP_134 | 114372222 | - | R/G | PTPN22 | 26191 | 748 |
| rs143703692 | dbSNP_134 | 114372578 | + | D/E | PTPN22 | 26191 | 709 |
| rs147233796 | dbSNP_134 | 114372624 | + | P/L | PTPN22 | 26191 | 694 |
| rs142861258 | dbSNP_134 | 114372645 | + | H/L | PTPN22 | 26191 | 687 |
| rs74111772 | dbSNP_134 | 114375747 | + | R/Q | PTPN22 | 26191 | 680 |
| rs74163661 | dbSNP_134 | 114377006 | - | I/M | PTPN22 | 26191 | 650 |
| rs146655207 | dbSNP_134 | 114377035 | + | S/P | PTPN22 | 26191 | 641 |
| rs74163660 | dbSNP_134 | 114377561 | - | P/R | PTPN22 | 26191 | 622 |
| rs2476601 | dbSNP_134 | 114377568 | + | R/W | PTPN22 | 26191 | 620 |
| rs138223016 | dbSNP_134 | 114377610 | + | A/S | PTPN22 | 26191 | 606 |
| rs61757796 | dbSNP_134 | 114380241 | + | S/L | PTPN22 | 26191 | 594 |
| rs74163659 | dbSNP_134 | 114380295 | - | S/C | PTPN22 | 26191 | 576 |
| rs114092230 | dbSNP_134 | 114380395 | + | S/G | PTPN22 | 26191 | 543 |
| rs142902754 | dbSNP_134 | 114380404 | + | W/R | PTPN22 | 26191 | 540 |
| rs74163657 | dbSNP_134 | 114380439 | - | Y/C | PTPN22 | 26191 | 528 |
| rs150552386 | dbSNP_134 | 114380469 | + | H/R | PTPN22 | 26191 | 518 |
| rs139083120 | dbSNP_134 | 114380578 | + | V/I | PTPN22 | 26191 | 482 |
| rs146517005 | dbSNP_134 | 114380639 | + | K/N | PTPN22 | 26191 | 461 |
| rs72650672 | dbSNP_134 | 114380656 | - | Q/E | PTPN22 | 26191 | 456 |
| rs112191110 | dbSNP_134 | 114380682 | + | T/I | PTPN22 | 26191 | 447 |
| rs74163655 | dbSNP_134 | 114380692 | - | I/L | PTPN22 | 26191 | 444 |
| rs112873647 | dbSNP_134 | 114380743 | + | S/SI | PTPN22 | 26191 | 426 |
| rs77913785 | dbSNP_134 | 114380858 | + | D/E | PTPN22 | 26191 | 388 |
| rs138092829 | dbSNP_134 | 114380886 | + | D/G | PTPN22 | 26191 | 379 |
| rs72650671 | dbSNP_134 | 114380914 | - | H/N | PTPN22 | 26191 | 370 |
| rs141677022 | dbSNP_134 | 114380944 | + | E/K | PTPN22 | 26191 | 360 |
| rs146211793 | dbSNP_134 | 114381166 | + | S/I | PTPN22 | 26191 | 331 |
| rs141632902 | dbSNP_134 | 114381181 | + | P/L | PTPN22 | 26191 | 326 |
| rs72483511 | dbSNP_134 | 114391248 | - | E/X | PTPN22 | 26191 | 277 |
| rs72650670 | dbSNP_134 | 114394681 | - | R/W | PTPN22 | 26191 | 266 |
| rs33996649 | dbSNP_134 | 114394689 | + | R/Q | PTPN22 | 26191 | 263 |
| rs143665827 | dbSNP_134 | 114394690 | + | R/W | PTPN22 | 26191 | 263 |
| rs138719022 | dbSNP_134 | 114397554 | + | S/G | PTPN22 | 26191 | 220 |
| rs145405400 | dbSNP_134 | 114397562 | + | E/V | PTPN22 | 26191 | 217 |
| rs61738614 | dbSNP_134 | 114397595 | + | L/R | PTPN22 | 26191 | 206 |
| rs74163647 | dbSNP_134 | 114397610 | - | S/F | PTPN22 | 26191 | 201 |
| rs34590413 | dbSNP_134 | 114397665 | + | R/X | PTPN22 | 26191 | 183 |
| rs143887079 | dbSNP_134 | 114399180 | + | S/C | PTPN22 | 26191 | 157 |
| rs115552198 | dbSNP_134 | 114399229 | + | R/C | PTPN22 | 26191 | 141 |
| rs140976677 | dbSNP_134 | 114401115 | + | W/X | PTPN22 | 26191 | 118 |
| rs144833744 | dbSNP_134 | 114401662 | + | D/N | PTPN22 | 26191 | 79 |
| rs140006258 | dbSNP_134 | 114401683 | + | E/K | PTPN22 | 26191 | 72 |
| rs74163642 | dbSNP_134 | 114401685 | - | V/A | PTPN22 | 26191 | 71 |
| rs145473954 | dbSNP_134 | 114414169 | + | N/S | PTPN22 | 26191 | 26 |
| rs114942995 | dbSNP_134 | 114424416 | + | F/L | BCL2L15 | 440603 | 151 |
| rs114959448 | dbSNP_134 | 114424424 | + | R/W | BCL2L15 | 440603 | 149 |
| rs138414265 | dbSNP_134 | 114424433 | + | Q/X | BCL2L15 | 440603 | 146 |
| rs116085462 | dbSNP_134 | 114424562 | + | D/N | BCL2L15 | 440603 | 103 |
| rs1217381 | dbSNP_134 | 114424601 | + | D/N | BCL2L15 | 440603 | 90 |
| rs114941235 | dbSNP_134 | 114424609 | + | I/T | BCL2L15 | 440603 | 87 |
| rs75493886 | dbSNP_134 | 114429213 | + | N/K | BCL2L15 | 440603 | 65 |
| rs78559267 | dbSNP_134 | 114429248 | + | A/S | BCL2L15 | 440603 | 54 |
| rs146778119 | dbSNP_134 | 114429886 | + | D/N | BCL2L15 | 440603 | 38 |
| rs79050956 | dbSNP_134 | 114437707 | + | I/V | AP4B1 | 10717 | 734 |
| rs11349 | dbSNP_134 | 114437737 | + | I/F | AP4B1 | 10717 | 724 |
| rs148223090 | dbSNP_134 | 114437743 | + | S/G | AP4B1 | 10717 | 722 |
| rs79922740 | dbSNP_134 | 114437779 | + | V/M | AP4B1 | 10717 | 710 |
| rs137886060 | dbSNP_134 | 114437824 | + | T/A | AP4B1 | 10717 | 695 |
| rs148748734 | dbSNP_134 | 114438064 | + | S/A | AP4B1 | 10717 | 615 |
| rs71744623 | dbSNP_134 | 114438117 | + | AP4B1 | 10717 | 597 | |
| rs75705876 | dbSNP_134 | 114438403 | + | K/X | AP4B1 | 10717 | 590 |
| rs114734921 | dbSNP_134 | 114438448 | + | I/V | AP4B1 | 10717 | 575 |
| rs149723440 | dbSNP_134 | 114438528 | + | P/L | AP4B1 | 10717 | 548 |
| rs78045846 | dbSNP_134 | 114438639 | + | V/G | AP4B1 | 10717 | 511 |
| rs145551290 | dbSNP_134 | 114438882 | + | I/T | AP4B1 | 10717 | 503 |
| rs147573619 | dbSNP_134 | 114438893 | + | L/F | AP4B1 | 10717 | 499 |
| rs145722506 | dbSNP_134 | 114438925 | + | A/S | AP4B1 | 10717 | 489 |
| rs149272848 | dbSNP_134 | 114438927 | + | P/H | AP4B1 | 10717 | 488 |
| rs1217401 | dbSNP_134 | 114438951 | + | L/S | AP4B1 | 10717 | 480 |
| rs142209254 | dbSNP_134 | 114439045 | + | R/X | AP4B1 | 10717 | 449 |
| rs139657454 | dbSNP_134 | 114440512 | + | A/T | AP4B1 | 10717 | 418 |
| rs145803736 | dbSNP_134 | 114440547 | + | R/Q | AP4B1 | 10717 | 406 |
| rs145182838 | dbSNP_134 | 114441349 | + | I/V | AP4B1 | 10717 | 397 |
| rs138042690 | dbSNP_134 | 114441397 | + | Q/E | AP4B1 | 10717 | 381 |
| rs143389123 | dbSNP_134 | 114442558 | + | A/V | AP4B1 | 10717 | 361 |
| rs140665228 | dbSNP_134 | 114442582 | + | R/Q | AP4B1 | 10717 | 353 |
| rs138335735 | dbSNP_134 | 114442583 | + | R/X | AP4B1 | 10717 | 353 |
| rs150622512 | dbSNP_134 | 114442598 | + | V/M | AP4B1 | 10717 | 348 |
| rs142732858 | dbSNP_134 | 114442672 | + | S/L | AP4B1 | 10717 | 323 |
| rs149335605 | dbSNP_134 | 114442673 | + | S/T | AP4B1 | 10717 | 323 |
| rs111785152 | dbSNP_134 | 114442742 | + | V/L | AP4B1 | 10717 | 300 |
| rs140090271 | dbSNP_134 | 114442786 | + | C/Y | AP4B1 | 10717 | 285 |
| rs145820731 | dbSNP_134 | 114442835 | + | V/I | AP4B1 | 10717 | 269 |
| rs143286419 | dbSNP_134 | 114442873 | + | T/I | AP4B1 | 10717 | 256 |
| rs141417436 | dbSNP_134 | 114442885 | + | V/A | AP4B1 | 10717 | 252 |
| rs138216814 | dbSNP_134 | 114442970 | + | R/C | AP4B1 | 10717 | 224 |
| rs147200873 | dbSNP_134 | 114442988 | + | V/L | AP4B1 | 10717 | 218 |
| rs149705131 | dbSNP_134 | 114443858 | + | R/Q | AP4B1 | 10717 | 206 |
| rs144490934 | dbSNP_134 | 114443969 | + | R/H | AP4B1 | 10717 | 169 |
| rs147043117 | dbSNP_134 | 114444457 | + | R/Q | AP4B1 | 10717 | 130 |
| rs143769705 | dbSNP_134 | 114444473 | + | I/V | AP4B1 | 10717 | 125 |
| rs75117963 | dbSNP_134 | 114444484 | + | I/K | AP4B1 | 10717 | 121 |
| rs138880168 | dbSNP_134 | 114444488 | + | Y/N | AP4B1 | 10717 | 120 |
| rs150762437 | dbSNP_134 | 114445270 | + | C/R | AP4B1 | 10717 | 110 |
| rs74361335 | dbSNP_134 | 114445279 | + | R/W | AP4B1 | 10717 | 107 |
| rs149478319 | dbSNP_134 | 114445351 | + | A/P | AP4B1 | 10717 | 83 |
| rs148787137 | dbSNP_134 | 114445422 | + | T/S | AP4B1 | 10717 | 59 |
| rs151293980 | dbSNP_134 | 114445423 | + | T/A | AP4B1 | 10717 | 59 |
| rs147059410 | dbSNP_134 | 114448255 | + | W/S | DCLRE1B | 64858 | 16 |
| rs142343310 | dbSNP_134 | 114448269 | + | A/T | DCLRE1B | 64858 | 21 |
| rs138654405 | dbSNP_134 | 114448279 | + | A/V | DCLRE1B | 64858 | 24 |
| rs143565817 | dbSNP_134 | 114448333 | + | S/T | DCLRE1B | 64858 | 42 |
| rs28381069 | dbSNP_134 | 114448345 | + | R/L | DCLRE1B | 64858 | 46 |
| rs141544518 | dbSNP_134 | 114448365 | + | I/V | DCLRE1B | 64858 | 53 |
| rs11552449 | dbSNP_134 | 114448389 | + | H/D | DCLRE1B | 64858 | 61 |
| rs11102700 | dbSNP_134 | 114449622 | + | S/F | DCLRE1B | 64858 | 65 |
| rs11552448 | dbSNP_134 | 114449642 | + | L/M | DCLRE1B | 64858 | 72 |
| rs144806903 | dbSNP_134 | 114449646 | + | E/A | DCLRE1B | 64858 | 73 |
| rs11552447 | dbSNP_134 | 114449670 | + | P/H | DCLRE1B | 64858 | 81 |
| rs138768729 | dbSNP_134 | 114449736 | + | S/F | DCLRE1B | 64858 | 103 |
| rs34762757 | dbSNP_134 | 114450657 | + | DCLRE1B | 64858 | 128 | |
| rs140411676 | dbSNP_134 | 114450669 | + | A/P | DCLRE1B | 64858 | 132 |
| rs141962323 | dbSNP_134 | 114450689 | + | Q/H | DCLRE1B | 64858 | 138 |
| rs150374247 | dbSNP_134 | 114450747 | + | R/X | DCLRE1B | 64858 | 158 |
| rs141015184 | dbSNP_134 | 114450759 | + | A/T | DCLRE1B | 64858 | 162 |
| rs138603501 | dbSNP_134 | 114450783 | + | R/X | DCLRE1B | 64858 | 170 |
| rs139388793 | dbSNP_134 | 114453918 | + | M/T | DCLRE1B | 64858 | 235 |
| rs145569979 | dbSNP_134 | 114454061 | + | R/C | DCLRE1B | 64858 | 283 |
| rs143568469 | dbSNP_134 | 114454062 | + | R/H | DCLRE1B | 64858 | 283 |
| rs145730345 | dbSNP_134 | 114454112 | + | R/W | DCLRE1B | 64858 | 300 |
| rs142747676 | dbSNP_134 | 114454362 | + | A/V | DCLRE1B | 64858 | 383 |
| rs141081316 | dbSNP_134 | 114454397 | + | R/W | DCLRE1B | 64858 | 395 |
| rs146482651 | dbSNP_134 | 114454398 | + | R/Q | DCLRE1B | 64858 | 395 |
| rs141159471 | dbSNP_134 | 114454400 | + | I/F | DCLRE1B | 64858 | 396 |
| rs150322296 | dbSNP_134 | 114454458 | + | F/S | DCLRE1B | 64858 | 415 |
| rs138564195 | dbSNP_134 | 114454565 | + | I/V | DCLRE1B | 64858 | 451 |
| rs28381079 | dbSNP_134 | 114454598 | + | D/N | DCLRE1B | 64858 | 462 |
| rs35183203 | dbSNP_134 | 114454706 | + | R/E | DCLRE1B | 64858 | 498 |
| rs140911649 | dbSNP_134 | 114454722 | + | K/T | DCLRE1B | 64858 | 503 |
| rs35397235 | dbSNP_134 | 114454742 | + | N/Y | DCLRE1B | 64858 | 510 |
| rs35324789 | dbSNP_134 | 114483022 | + | Q/R | HIPK1 | 204851 | 6 |
| rs141245432 | dbSNP_134 | 114483471 | + | HIPK1 | 204851 | 156 | |
| rs140342055 | dbSNP_134 | 114483544 | + | H/R | HIPK1 | 204851 | 180 |
| rs80160038 | dbSNP_134 | 114483668 | + | L/F | HIPK1 | 204851 | 221 |
| rs150961452 | dbSNP_134 | 114483768 | + | Y/H | HIPK1 | 204851 | 255 |
| rs74426646 | dbSNP_134 | 114483851 | + | N/K | HIPK1 | 204851 | 282 |
| rs34335651 | dbSNP_134 | 114483933 | + | G/C | HIPK1 | 204851 | 310 |
| rs140021280 | dbSNP_134 | 114498240 | + | Y/F | HIPK1 | 204851 | 459 |
| rs114411909 | dbSNP_134 | 114499892 | + | N/S | HIPK1 | 204851 | 580 |
| rs114046588 | dbSNP_134 | 114500694 | + | V/I | HIPK1 | 204851 | 588 |
| rs57585637 | dbSNP_134 | 114500734 | + | S/F | HIPK1 | 204851 | 601 |
| rs147784034 | dbSNP_134 | 114500748 | + | D/N | HIPK1 | 204851 | 606 |
| rs141561706 | dbSNP_134 | 114505011 | + | Q/P | HIPK1 | 204851 | 685 |
| rs17853139 | dbSNP_134 | 114506067 | + | P/Q | HIPK1 | 204851 | 721 |
| rs142674370 | dbSNP_134 | 114508845 | + | A/T | HIPK1 | 204851 | 778 |
| rs114325298 | dbSNP_134 | 114512582 | + | G/R | HIPK1 | 204851 | 926 |
| rs114322315 | dbSNP_134 | 114512583 | + | G/V | HIPK1 | 204851 | 926 |
| rs147800588 | dbSNP_134 | 114512651 | + | L/V | HIPK1 | 204851 | 949 |
| rs145053914 | dbSNP_134 | 114512664 | + | Y/S | HIPK1 | 204851 | 953 |
| rs149016587 | dbSNP_134 | 114512670 | + | T/I | HIPK1 | 204851 | 955 |
| rs141047620 | dbSNP_134 | 114512693 | + | G/S | HIPK1 | 204851 | 963 |
| rs114387016 | dbSNP_134 | 114512744 | + | T/A | HIPK1 | 204851 | 980 |
| rs146312493 | dbSNP_134 | 114512779 | + | K/N | HIPK1 | 204851 | 991 |
| rs114944075 | dbSNP_134 | 114514475 | + | A/T | HIPK1 | 204851 | 1015 |
| rs148680235 | dbSNP_134 | 114514530 | + | A/V | HIPK1 | 204851 | 1033 |
| rs147397910 | dbSNP_134 | 114514536 | + | R/H | HIPK1 | 204851 | 1035 |
| rs113267891 | dbSNP_134 | 114514577 | + | V/L | HIPK1 | 204851 | 1049 |
| rs12568463 | dbSNP_134 | 114514598 | + | L/F | HIPK1 | 204851 | 1056 |
| rs150942801 | dbSNP_134 | 114514619 | + | V/I | HIPK1 | 204851 | 1063 |
| rs56401016 | dbSNP_134 | 114514643 | + | L/V | HIPK1 | 204851 | 1071 |
| rs17853522 | dbSNP_134 | 114515662 | + | A/V | HIPK1 | 204851 | 1054 |
| rs138660116 | dbSNP_134 | 114515767 | + | P/L | HIPK1 | 204851 | 1089 |
| rs34966241 | dbSNP_134 | 114515968 | + | V/A | HIPK1 | 204851 | 1156 |
| rs139657411 | dbSNP_134 | 114515971 | + | P/R | HIPK1 | 204851 | 1157 |
| rs150473583 | dbSNP_134 | 114515994 | + | L/F | HIPK1 | 204851 | 1165 |
| rs142071670 | dbSNP_134 | 114516067 | + | R/Q | HIPK1 | 204851 | 1189 |
| rs140198710 | dbSNP_134 | 114516078 | + | I/V | HIPK1 | 204851 | 1193 |
| rs11553080 | dbSNP_134 | 114522977 | + | D/E | OLFML3 | 56944 | 46 |
| rs140666123 | dbSNP_134 | 114523006 | + | R/Q | OLFML3 | 56944 | 56 |
| rs144544470 | dbSNP_134 | 114523069 | + | R/T | OLFML3 | 56944 | 77 |
| rs145257286 | dbSNP_134 | 114523113 | + | R/W | OLFML3 | 56944 | 92 |
| rs138164881 | dbSNP_134 | 114523585 | + | I/V | OLFML3 | 56944 | 139 |
| rs147669432 | dbSNP_134 | 114523681 | + | V/M | OLFML3 | 56944 | 171 |
| rs11553081 | dbSNP_134 | 114523704 | + | D/E | OLFML3 | 56944 | 178 |
| rs35317518 | dbSNP_134 | 114523729 | + | R/S | OLFML3 | 56944 | 187 |
| rs139529930 | dbSNP_134 | 114523753 | + | A/S | OLFML3 | 56944 | 195 |
| rs140675105 | dbSNP_134 | 114523838 | + | R/Q | OLFML3 | 56944 | 223 |
| rs151084386 | dbSNP_134 | 114523963 | + | P/A | OLFML3 | 56944 | 265 |
| rs112468878 | dbSNP_134 | 114524027 | + | V/A | OLFML3 | 56944 | 286 |
| rs141551539 | dbSNP_134 | 114524038 | + | R/W | OLFML3 | 56944 | 290 |
| rs143692625 | dbSNP_134 | 114524141 | + | A/V | OLFML3 | 56944 | 324 |
| rs150666243 | dbSNP_134 | 114524170 | + | V/I | OLFML3 | 56944 | 334 |
| rs146401239 | dbSNP_134 | 114524192 | + | S/T | OLFML3 | 56944 | 341 |
| rs144472671 | dbSNP_134 | 114524237 | + | T/I | OLFML3 | 56944 | 356 |
| rs144740096 | dbSNP_134 | 114524275 | + | Y/H | OLFML3 | 56944 | 369 |
| rs142200631 | dbSNP_134 | 114524296 | + | R/C | OLFML3 | 56944 | 376 |
| rs147910096 | dbSNP_134 | 114524315 | + | R/H | OLFML3 | 56944 | 382 |
| rs142164979 | dbSNP_134 | 114640393 | + | A/T | SYT6 | 148281 | 406 |
| rs148168972 | dbSNP_134 | 114640467 | + | R/H | SYT6 | 148281 | 381 |
| rs150717431 | dbSNP_134 | 114640468 | + | R/C | SYT6 | 148281 | 381 |
| rs149899868 | dbSNP_134 | 114641717 | + | R/X | SYT6 | 148281 | 370 |
| rs144421687 | dbSNP_134 | 114646270 | + | V/G | SYT6 | 148281 | 297 |
(Human) GRCh37 - chr1:113818477..114658477 (840 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 | ||||||||||||||||
|
N/A | 0.5 | chr1: 114075796..114528368 | LOC100287722 AP4B1 PHTF1 HIPK1 MAGI3 PTPN22 BCL2L15 RSBN1 OLFML3 DCLRE1B |
|
||||||||||||||
| 0.4 | N/A | chr1: 114173410..114450964 | LOC100287722 AP4B1 PHTF1 MAGI3 PTPN22 BCL2L15 RSBN1 DCLRE1B | ||||||||||||||||
| 0.8 | N/A | chr1: 114303808..114377568 | PTPN22 RSBN1 | ||||||||||||||||
| 1 | N/A | ||||||||||||||||||
Publications: 12
-
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
Franke A, McGovern DP, Barrett JC, Wang K, Radford-Smith GL, Ahmad T, Lees CW, Balschun T, Lee J, Roberts R, Anderson CA, Bis JC, Bumpstead S, Ellinghaus D, Festen EM, Georges M, Green T, Haritunians T, Jostins L, Latiano A, Mathew CG, Montgomery GW, Prescott NJ, Raychaudhuri S, Rotter JI, Schumm P, Sharma Y, Simms LA, Taylor KD, Whiteman D, Wijmenga C, Baldassano RN, Barclay M, Bayless TM, Brand S, Büning C, Cohen A, Colombel JF, Cottone M, Stronati L, Denson T, De Vos M, D'Inca R, Dubinsky M, Edwards C, Florin T, Franchimont D, Gearry R, Glas J, Van Gossum A, Guthery SL, Halfvarson J, Verspaget HW, Hugot JP, Karban A, Laukens D, Lawrance I, Lemann M, Levine A, Libioulle C, Louis E, Mowat C, Newman W, Panés J, Phillips A, Proctor DD, Regueiro M, Russell R, Rutgeerts P, Sanderson J, Sans M, Seibold F, Steinhart AH, Stokkers PC, Torkvist L, Kullak-Ublick G, Wilson D, Walters T, Targan SR, Brant SR, Rioux JD, D'Amato M, Weersma RK, Kugathasan S, Griffiths AM, Mansfield JC, Vermeire S, Duerr RH, Silverberg MS, Satsangi J, Schreiber S, Cho JH, Annese V, Hakonarson H, Daly MJ, Parkes M
Nat Genet. 2010
PubMed ID: 21102463
-
Investigation of potential non-HLA rheumatoid arthritis susceptibility loci in a European cohort increases the evidence for nine markers.
Plant D, Flynn E, Mbarek H, Dieudé P, Cornelis F, Arlestig L, Dahlqvist SR, Goulielmos G, Boumpas DT, Sidiropoulos P, Johansen JS, Ørnbjerg LM, Hetland ML, Klareskog L, Filer A, Buckley CD, Raza K, Witte T, Schmidt RE, Worthington J
Ann Rheum Dis. 2010
PubMed ID: 20498205
-
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
Stahl EA, Raychaudhuri S, Remmers EF, Xie G, Eyre S, Thomson BP, Li Y, Kurreeman FA, Zhernakova A, Hinks A, Guiducci C, Chen R, Alfredsson L, Amos CI, Ardlie KG, BIRAC Consortium, Barton A, Bowes J, Brouwer E, Burtt NP, Catanese JJ, Coblyn J, Coenen MJ, Costenbader KH, Criswell LA, Crusius JB, Cui J, de Bakker PI, De Jager PL, Ding B, Emery P, Flynn E, Harrison P, Hocking LJ, Huizinga TW, Kastner DL, Ke X, Lee AT, Liu X, Martin P, Morgan AW, Padyukov L, Posthumus MD, Radstake TR, Reid DM, Seielstad M, Seldin MF, Shadick NA, Steer S, Tak PP, Thomson W, van der Helm-van Mil AH, van der Horst-Bruinsma IE, van der Schoot CE, van Riel PL, Weinblatt ME, Wilson AG, Wolbink GJ, Wordsworth BP, YEAR Consortium, Wijmenga C, Karlson EW, Toes RE, de Vries N, Begovich AB, Worthington J, Siminovitch KA, Gregersen PK, Klareskog L, Plenge RM
Nat Genet. 2010
PubMed ID: 20453842
-
Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects.
Wang K, Baldassano R, Zhang H, Qu HQ, Imielinski M, Kugathasan S, Annese V, Dubinsky M, Rotter JI, Russell RK, Bradfield JP, Sleiman PM, Glessner JT, Walters T, Hou C, Kim C, Frackelton EC, Garris M, Doran J, Romano C, Catassi C, Van Limbergen J, Guthery SL, Denson L, Piccoli D, Silverberg MS, Stanley CA, Monos D, Wilson DC, Griffiths A, Grant SF, Satsangi J, Polychronakos C, Hakonarson H
Hum Mol Genet. 2010
PubMed ID: 20176734
-
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
Jin Y, Birlea SA, Fain PR, Gowan K, Riccardi SL, Holland PJ, Mailloux CM, Sufit AJ, Hutton SM, Amadi-Myers A, Bennett DC, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, Taïeb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A, Spritz RA
N Engl J Med. 2010
PubMed ID: 20410501
-
A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
Gateva V, Sandling JK, Hom G, Taylor KE, Chung SA, Sun X, Ortmann W, Kosoy R, Ferreira RC, Nordmark G, Gunnarsson I, Svenungsson E, Padyukov L, Sturfelt G, Jönsen A, Bengtsson AA, Rantapää-Dahlqvist S, Baechler EC, Brown EE, Alarcón GS, Edberg JC, Ramsey-Goldman R, McGwin G, Reveille JD, Vilá LM, Kimberly RP, Manzi S, Petri MA, Lee A, Gregersen PK, Seldin MF, Rönnblom L, Criswell LA, Syvänen AC, Behrens TW, Graham RR
Nat Genet. 2009
PubMed ID: 19838195
-
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
-
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
PubMed ID: 19073967
-
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD, Brant SR, Silverberg MS, Taylor KD, Barmada MM, Bitton A, Dassopoulos T, Datta LW, Green T, Griffiths AM, Kistner EO, Murtha MT, Regueiro MD, Rotter JI, Schumm LP, Steinhart AH, Targan SR, Xavier RJ, NIDDK IBD Genetics Consortium, Libioulle C, Sandor C, Lathrop M, Belaiche J, Dewit O, Gut I, Heath S, Laukens D, Mni M, Rutgeerts P, Van Gossum A, Zelenika D, Franchimont D, Hugot JP, de Vos M, Vermeire S, Louis E, Belgian-French IBD Consortium, Wellcome Trust Case Control Consortium, Cardon LR, Anderson CA, Drummond H, Nimmo E, Ahmad T, Prescott NJ, Onnie CM, Fisher SA, Marchini J, Ghori J, Bumpstead S, Gwilliam R, Tremelling M, Deloukas P, Mansfield J, Jewell D, Satsangi J, Mathew CG, Parkes M, Georges M, Daly MJ
Nat Genet. 2008
PubMed ID: 18587394
-
Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus.
Smyth D, Cooper JD, Collins JE, Heward JM, Franklyn JA, Howson JM, Vella A, Nutland S, Rance HE, Maier L, Barratt BJ, Guja C, Ionescu-Tîrgoviste C, Savage DA, Dunger DB, Widmer B, Strachan DP, Ring SM, Walker N, Clayton DG, Twells RC, Gough SC, Todd JA
Diabetes. 2004
PubMed ID: 15504986
-
A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.
Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, Huang Q, Smith AM, Spoerke JM, Conn MT, Chang M, Chang SY, Saiki RK, Catanese JJ, Leong DU, Garcia VE, McAllister LB, Jeffery DA, Lee AT, Batliwalla F, Remmers E, Criswell LA, Seldin MF, Kastner DL, Amos CI, Sninsky JJ, Gregersen PK
Am J Hum Genet. 2004
PubMed ID: 15208781
-
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes.
Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M, MacMurray J, Meloni GF, Lucarelli P, Pellecchia M, Eisenbarth GS, Comings D, Mustelin T
Nat Genet. 2004
PubMed ID: 15004560
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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