SLC9A9
solute carrier family 9 member A9
Summary
This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012]
Known Variants96 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs749374988 | 3:142,985,603 | C/T | — | uncertain significance |
| rs140458970 | 3:142,985,617 | T/C | — | uncertain significance |
| rs776027229 | 3:142,985,630 | T/C | — | uncertain significance |
| rs142530401 | 3:142,985,658 | G/A | — | benign |
| rs144779737 | 3:142,985,674 | G/T | — | conflicting classifications of pathogenicity |
| rs147992384 | 3:142,985,681 | G/A | — | uncertain significance |
| rs966124408 | 3:142,985,716 | A/G | — | uncertain significance |
| rs1085307858 | 3:142,985,740 | A/G | — | uncertain significance |
| rs2472742177 | 3:142,985,752 | T/C | — | uncertain significance |
| rs747297478 | 3:142,985,763 | T/C | — | likely benign |
| rs761296441 | 3:142,987,721 | T/A | — | uncertain significance |
| rs148398960 | 3:142,987,753 | C/T | — | likely benign |
| rs554040681 | 3:142,987,761 | A/G | — | uncertain significance |
| rs1297654193 | 3:142,987,770 | G/A | — | uncertain significance |
| rs61750363 | 3:142,987,786 | C/T | — | likely benign |
| rs373695106 | 3:142,987,793 | C/T | — | uncertain significance |
| rs16853300 | 3:142,987,809 | T/C | — | benign |
| rs17636071 | 3:143,005,029 | T/C | intron variant | — |
| rs1393072 | 3:143,020,870 | T/G | — | — |
| rs1995356 | 3:143,029,022 | T/C | downstream gene variant | — |
| rs180982503 | 3:143,049,918 | C/T | intron variant | — |
| rs7632299 | 3:143,056,467 | G/T | — | — |
| rs759747796 | 3:143,082,316 | C/G | — | likely benign |
| rs755000797 | 3:143,082,337 | G/C | — | uncertain significance |
| rs145513972 | 3:143,082,355 | G/A | — | likely benign |
| rs151078834 | 3:143,082,358 | C/G | — | benign |
| rs761026736 | 3:143,082,402 | C/T | — | uncertain significance |
| rs7650457 | 3:143,097,979 | C/T | upstream gene variant | — |
| rs111291437 | 3:143,100,940 | C/T | — | likely benign |
| rs763435166 | 3:143,100,944 | G/T | — | uncertain significance |
| rs371826063 | 3:143,100,948 | A/G | — | uncertain significance |
| rs201448381 | 3:143,100,950 | G/A | — | likely benign |
| rs2293330 | 3:143,103,842 | T/C | — | — |
| rs77821854 | 3:143,143,636 | A/G | intron variant | — |
| rs61591068 | 3:143,167,372 | A/G | — | — |
| rs2473078857 | 3:143,185,898 | A/G | — | uncertain significance |
| rs61734421 | 3:143,185,920 | A/G | — | benign |
| rs2473078924 | 3:143,185,922 | A/G | — | uncertain significance |
| rs61734422 | 3:143,185,923 | T/G | — | benign |
| rs777746779 | 3:143,185,951 | A/G | — | uncertain significance |
| rs199758532 | 3:143,185,958 | T/C | — | uncertain significance |
| rs761372851 | 3:143,185,968 | C/A | — | uncertain significance |
| rs61734409 | 3:143,185,970 | T/C | — | uncertain significance |
| rs752878648 | 3:143,185,997 | G/A | — | uncertain significance |
| rs774025101 | 3:143,186,003 | C/T | — | uncertain significance |
| rs2473079198 | 3:143,186,012 | A/G | — | uncertain significance |
| rs200816223 | 3:143,186,020 | G/A | — | uncertain significance |
| rs866526285 | 3:143,186,027 | G/A | — | uncertain significance |
| rs76347047 | 3:143,201,440 | A/G | regulatory region variant | — |
| rs368254745 | 3:143,212,542 | C/T | — | uncertain significance |
| rs121912597 | 3:143,212,543 | G/A | stop gained | risk factor |
| rs1576534280 | 3:143,212,596 | A/C | — | uncertain significance |
| rs2035814212 | 3:143,214,176 | C/T | — | uncertain significance |
| rs140335350 | 3:143,214,222 | C/T | — | likely benign |
| rs185326965 | 3:143,237,931 | A/G | upstream gene variant | — |
| rs1371924 | 3:143,250,070 | T/C | regulatory region variant | — |
| rs1057518347 | 3:143,271,211 | G/C | — | uncertain significance |
| rs376728631 | 3:143,271,290 | T/A | — | uncertain significance |
| rs200214958 | 3:143,292,926 | T/A | — | uncertain significance |
| rs1481015080 | 3:143,292,932 | G/A | — | uncertain significance |
| rs775325802 | 3:143,293,004 | G/A | — | uncertain significance |
| rs6763202 | 3:143,293,012 | G/A | — | benign |
| rs2473285741 | 3:143,297,435 | T/C | — | uncertain significance |
| rs151096476 | 3:143,297,460 | T/G | — | benign |
| rs779357534 | 3:143,297,471 | C/T | — | uncertain significance |
| rs367928449 | 3:143,297,474 | C/T | — | uncertain significance |
| rs149972768 | 3:143,297,475 | G/A | — | likely benign |
| rs780759894 | 3:143,297,483 | C/T | — | uncertain significance |
| rs76569782 | 3:143,297,490 | A/G | — | benign |
| rs141404629 | 3:143,297,493 | C/T | — | benign |
| rs143468139 | 3:143,297,516 | C/T | — | uncertain significance |
| rs148869886 | 3:143,297,562 | A/G | — | likely benign |
| rs2473450982 | 3:143,371,101 | T/G | — | uncertain significance |
| rs143553548 | 3:143,371,129 | C/T | — | likely benign |
| rs113649536 | 3:143,371,145 | A/G | — | likely benign |
| rs548486307 | 3:143,371,150 | T/C | — | likely benign |
| rs140773627 | 3:143,371,168 | G/A | — | likely benign |
| rs138632391 | 3:143,412,107 | G/T | — | likely benign |
| rs199812035 | 3:143,412,129 | A/C | — | uncertain significance |
| rs368916653 | 3:143,412,138 | T/A | — | uncertain significance |
| rs2800 | 3:143,424,822 | C/T | intron variant | — |
| rs9828519 | 3:143,425,978 | G/T | — | — |
| rs7645841 | 3:143,443,103 | C/A | intron variant | — |
| rs2166775 | 3:143,504,533 | G/A | intron variant | — |
| rs2008335439 | 3:143,513,824 | A/C | — | likely benign |
| rs150706810 | 3:143,513,833 | T/C | — | benign |
| rs2008336418 | 3:143,513,847 | T/C | — | uncertain significance |
| rs201948779 | 3:143,513,885 | G/A | — | uncertain significance |
| rs200274055 | 3:143,515,662 | A/G | — | likely benign |
| rs2473681167 | 3:143,515,668 | C/G | — | uncertain significance |
| rs774106638 | 3:143,515,688 | C/T | — | uncertain significance |
| rs7653164 | 3:143,550,855 | C/A | — | benign |
| rs75035051 | 3:143,550,956 | C/T | — | benign |
| rs115966881 | 3:143,567,018 | C/T | — | benign |
| rs140007028 | 3:143,567,036 | A/T | — | uncertain significance |
| rs758269976 | 3:143,567,110 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.