SCN9A

sodium voltage-gated channel alpha subunit 9

Summary

This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]

Known Variants2,151 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1868388282:167,051,756T/Aconflicting classifications of pathogenicity
rs1916679862:167,051,865T/Clikely benign
rs1394834822:167,051,900T/Guncertain significance
rs2013000712:167,051,978C/Tuncertain significance
rs10151845752:167,051,980A/Guncertain significance
rs1826875832:167,052,080G/Aconflicting classifications of pathogenicity
rs14335036942:167,052,088T/Cuncertain significance
rs1996567292:167,052,129C/Tuncertain significance
rs1157667302:167,052,144A/Glikely benign
rs2017303392:167,052,196A/Cuncertain significance
rs16932265072:167,052,237G/Tuncertain significance
rs1995594782:167,052,254C/Tuncertain significance
rs2009633932:167,052,322G/Auncertain significance
rs730175382:167,052,328A/Gbenign
rs13138402762:167,052,453G/Tuncertain significance
rs1995959582:167,052,461G/Clikely benign
rs14720412172:167,052,505A/Guncertain significance
rs1498733202:167,052,520C/Tlikely benign
rs133965262:167,052,542C/Tbenign
rs582494892:167,052,642G/Abenign
rs2009628142:167,052,838G/Aconflicting classifications of pathogenicity
rs1421725272:167,052,859C/Alikely benign
rs1855801932:167,052,870T/Alikely benign
rs753455202:167,052,885T/Abenign
rs2007909572:167,052,954C/Aconflicting classifications of pathogenicity
rs1413104252:167,052,956A/Cconflicting classifications of pathogenicity
rs1999588922:167,052,960A/Guncertain significance
rs2007508612:167,052,970A/Glikely benign
rs2011840932:167,052,991C/Tconflicting classifications of pathogenicity
rs775655412:167,053,027C/Tlikely benign
rs178040372:167,053,028G/Cbenign
rs10628442:167,053,036C/Gbenign
rs770508172:167,053,046G/Cbenign
rs5480720612:167,053,104G/Aconflicting classifications of pathogenicity
rs2022032202:167,053,367A/Guncertain significance
rs168517512:167,053,386G/Abenign
rs1148438282:167,053,408C/Tbenign
rs2003530652:167,053,412T/Guncertain significance
rs16932632462:167,053,447G/Tuncertain significance
rs168517532:167,053,522C/Tbenign
rs16932657712:167,053,539A/Guncertain significance
rs1998489272:167,053,577A/Guncertain significance
rs730175422:167,053,690G/Cbenign
rs16932721372:167,053,760A/Guncertain significance
rs2011209402:167,053,765T/Cuncertain significance
rs8969764192:167,053,799C/Auncertain significance
rs2003382672:167,053,825G/Auncertain significance
rs119029202:167,053,998A/Cbenign
rs2003934132:167,054,168C/Tconflicting classifications of pathogenicity
rs168517542:167,054,169G/Abenign
rs1437278952:167,054,224G/Alikely benign
rs2014158022:167,054,234C/Tuncertain significance
rs2014248992:167,054,262A/Tlikely benign
rs2008295622:167,054,282A/Guncertain significance
rs2006110072:167,054,295A/Guncertain significance
rs1999559412:167,054,347G/Tuncertain significance
rs1812295062:167,054,397G/Aconflicting classifications of pathogenicity
rs5385086192:167,054,513T/Cconflicting classifications of pathogenicity
rs2001530852:167,054,772T/Auncertain significance
rs2012915382:167,054,774T/Cuncertain significance
rs1154646542:167,054,805G/Clikely benign
rs1858325672:167,054,820G/Alikely benign
rs168517552:167,054,945G/Auncertain significance
rs1405534512:167,054,947G/Alikely benign
rs8860550482:167,054,956T/Guncertain significance
rs2006258602:167,054,965C/Tconflicting classifications of pathogenicity
rs1115102772:167,054,978C/Tlikely benign
rs11583301622:167,055,018C/Tuncertain significance
rs2011331732:167,055,023A/Guncertain significance
rs168517592:167,055,053G/Abenign
rs2004650502:167,055,057G/Alikely benign
rs2011377482:167,055,058T/Cconflicting classifications of pathogenicity
rs1504018692:167,055,164T/Clikely benign
rs7554548792:167,055,185T/Guncertain significance
rs7807951302:167,055,186T/Auncertain significance
rs2007855712:167,055,193T/Cuncertain significance
rs7558502992:167,055,195T/Cuncertain significance
rs7772300632:167,055,196C/Tuncertain significance
rs2016402102:167,055,200G/Cconflicting classifications of pathogenicity
rs7708028412:167,055,201C/Auncertain significance
rs1998223032:167,055,204T/Aconflicting classifications of pathogenicity
rs21063354692:167,055,206T/Auncertain significance
rs16933214682:167,055,210C/Tuncertain significance
rs15534726662:167,055,220C/Tuncertain significance
rs2007444022:167,055,221C/Tlikely benign
rs10344520972:167,055,223T/Cuncertain significance
rs16933225302:167,055,226C/Guncertain significance
rs16933227532:167,055,228G/Auncertain significance
rs7719034382:167,055,231C/Guncertain significance
rs15534726762:167,055,232T/Cuncertain significance
rs15534726782:167,055,233G/Alikely benign
rs21063355602:167,055,234T/Cuncertain significance
rs16933232812:167,055,235C/Tuncertain significance
rs21063355772:167,055,239T/Auncertain significance
rs7768300482:167,055,242A/Glikely benign
rs7617422072:167,055,243T/Cuncertain significance
rs13786354102:167,055,244A/Guncertain significance
rs11644646362:167,055,248C/Guncertain significance
rs15534727002:167,055,250C/Auncertain significance
rs24688736052:167,055,255T/Auncertain significance

Showing 100 of 2,151 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.