CDSN

corneodesmosin

Summary

This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human populations, and variation has been associated with skin diseases such as psoriasis, hypotrichosis and peeling skin syndrome. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq, Dec 2014]

Known Variants112 total

rsidPosition (GRCh37)AllelesClassClinVar
rs92636366:31,082,716A/Gregulatory region variant—
rs30942196:31,083,286G/T——
rs30942176:31,083,656G/A—benign
rs10421346:31,083,664G/A—benign
rs30952976:31,083,729A/C—benign
rs31309816:31,083,813T/C—benign
rs21509556546:31,083,825C/T—uncertain significance
rs7542672466:31,083,860G/A—uncertain significance
rs3753682286:31,083,866A/G—likely benign
rs1509586596:31,083,867G/A—likely benign
rs1408019676:31,083,876C/T—uncertain significance
rs1501116906:31,083,877T/C—likely benign
rs1384082286:31,083,894G/A—uncertain significance
rs7683016216:31,083,902C/T—uncertain significance
rs12464869516:31,083,933C/T—likely pathogenic
rs10437162796:31,083,948C/T—uncertain significance
rs1380932086:31,083,951C/A—uncertain significance
rs1999054836:31,083,979G/A—benign
rs1425700096:31,083,980G/A—uncertain significance
rs1179517806:31,084,034C/T—benign
rs30942166:31,084,048A/G—benign
rs2018769166:31,084,052G/A—uncertain significance
rs7590991766:31,084,072A/T—uncertain significance
rs31309826:31,084,075G/T—benign
rs7645352276:31,084,082G/A—uncertain significance
rs1508461586:31,084,090G/T—likely benign
rs1398971246:31,084,106C/A—uncertain significance
rs5367313306:31,084,159G/A—likely benign
rs31325546:31,084,163A/G—benign
rs95010546:31,084,166C/A—benign
rs10421276:31,084,170C/A—benign
rs339413126:31,084,191T/C—benign
rs11622963386:31,084,192G/A—likely benign
rs15543384996:31,084,218A/G—uncertain significance
rs1930212536:31,084,244C/T—benign
rs10421266:31,084,288T/C—benign
rs7515264166:31,084,298G/A—uncertain significance
rs360973196:31,084,333G/A—benign
rs1511616376:31,084,388C/G—uncertain significance
rs10624706:31,084,435G/A—benign
rs24810860216:31,084,451C/G—uncertain significance
rs24810860816:31,084,455A/T—uncertain significance
rs2006395686:31,084,489G/A—likely benign
rs7475352546:31,084,522G/T—uncertain significance
rs7713111726:31,084,535A/G—uncertain significance
rs5648064826:31,084,548G/T—uncertain significance
rs5474069286:31,084,571C/T—uncertain significance
rs7574933426:31,084,605C/G—uncertain significance
rs1501638286:31,084,627C/T—likely benign
rs47134366:31,084,639C/T—benign
rs7743367026:31,084,683C/T—uncertain significance
rs30942156:31,084,684G/A—benign
rs5701681046:31,084,690C/T—likely benign
rs1456370556:31,084,714G/A—likely benign
rs1383571386:31,084,716G/A—uncertain significance
rs1177643986:31,084,723G/A—benign
rs1219178196:31,084,749G/Astop gainedpathogenic
rs7079136:31,084,787A/G—benign
rs31309836:31,084,792C/T—benign
rs1219178206:31,084,794G/Astop gainedpathogenic
rs1508988296:31,084,817G/A—likely benign
rs7484685076:31,084,842G/A—uncertain significance
rs1483930626:31,084,856T/C—likely benign
rs1848721336:31,084,864C/T—likely benign
rs24810895596:31,084,908G/A—likely pathogenic
rs17721875846:31,084,915G/A—likely benign
rs1425735706:31,084,917T/C—uncertain significance
rs1440388416:31,084,936G/C—benign
rs7528407826:31,084,938T/C—conflicting classifications of pathogenicity
rs2003965216:31,084,941T/A—benign
rs11841328266:31,084,943C/T—uncertain significance
rs31309846:31,084,964T/C—benign
rs6062312756:31,084,968C/Astop gainedpathogenic
rs1995886446:31,085,004C/G—uncertain significance
rs24810906586:31,085,013C/T—uncertain significance
rs2018866776:31,085,024G/C—uncertain significance
rs7619526336:31,085,117G/A—uncertain significance
rs758439246:31,085,136C/T—benign
rs7463190786:31,085,153C/T—uncertain significance
rs31325536:31,085,200A/G—benign
rs3879068416:31,085,217T/Astop gainedpathogenic
rs77420336:31,085,226G/A—likely benign
rs31325526:31,085,269A/G—benign
rs1448475886:31,085,286C/T—benign
rs7608045596:31,085,289T/G—uncertain significance
rs11897252506:31,085,323T/C—likely benign
rs12650456:31,085,340G/A—benign
rs31309856:31,085,356C/T—benign
rs30942146:31,085,382C/A—benign
rs31305556:31,085,547G/C—benign
rs31309866:31,085,563G/A—benign
rs31309886:31,085,700C/Tintron variant—
rs30942126:31,085,770G/Aintron variant—
rs31325506:31,086,048G/Aintron variant—
rs784793816:31,086,424A/Tintron variant—
rs31309916:31,087,354C/Tintron variant—
rs30942106:31,087,598G/Aintron variant—
rs31325476:31,087,908T/G—benign
rs30953206:31,087,934G/A—benign
rs30953196:31,088,037T/C—benign

Showing 100 of 112 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.