DSCAM

DS cell adhesion molecule

Summary

This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

Known Variants211 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37004144221:41,385,020C/T—uncertain significance
rs37438968121:41,385,045C/T—uncertain significance
rs78158696521:41,385,074C/G—uncertain significance
rs20218768521:41,385,121C/T—likely benign
rs77658052521:41,385,129C/T—likely benign
rs77935399621:41,385,133G/C—likely benign
rs76453149921:41,385,158T/C—uncertain significance
rs37213252821:41,385,177C/T—likely benign
rs251690568621:41,414,354T/A—uncertain significance
rs139254562621:41,414,375C/T—uncertain significance
rs37119078121:41,414,458C/T—likely benign
rs251690619321:41,414,469T/C—uncertain significance
rs11474105021:41,414,524G/A—likely benign
rs19951290421:41,414,530G/A—likely benign
rs208877478121:41,414,588C/T—uncertain significance
rs20076494421:41,414,590T/C—likely benign
rs18197783321:41,414,596T/G—benign
rs998186121:41,415,044T/Cintron variant—
rs20001150421:41,415,996A/T—benign
rs20061208221:41,416,015C/T—likely benign
rs74843162721:41,416,026C/T—uncertain significance
rs208880348721:41,416,029T/C—uncertain significance
rs37330403121:41,416,042C/G—likely benign
rs76737103421:41,416,070G/T—uncertain significance
rs143717279621:41,416,094G/T—uncertain significance
rs147430787821:41,416,098G/A—uncertain significance
rs208880543821:41,416,104G/A—uncertain significance
rs20143323421:41,416,108T/C—benign
rs20189062621:41,416,119G/T—likely benign
rs136950128621:41,416,128G/A—pathogenic
rs19136973121:41,416,163G/A—likely benign
rs251692877021:41,423,883A/G—uncertain significance
rs251692880921:41,423,888T/C—uncertain significance
rs20177263421:41,423,955C/T—likely benign
rs20145731821:41,424,009C/G—benign
rs53034829121:41,424,021C/T—likely benign
rs74794253421:41,424,022G/A—uncertain significance
rs77270552321:41,424,029G/A—uncertain significance
rs160128022721:41,427,708A/T—uncertain significance
rs76674774021:41,427,717C/T—uncertain significance
rs97181757321:41,427,718G/A—uncertain significance
rs251693849621:41,427,730G/C—uncertain significance
rs75127974921:41,434,830G/C—uncertain significance
rs251698182821:41,447,122A/T—uncertain significance
rs75529272021:41,447,135T/C—likely benign
rs37887721:41,447,313C/Tintron variant—
rs39475321:41,450,509A/Cintron variant—
rs140951595821:41,450,635C/T—uncertain significance
rs76119458821:41,450,642G/C—benign
rs76695588821:41,450,648C/T—likely benign
rs18817137621:41,450,663C/T—benign
rs251698792121:41,450,681C/A—uncertain significance
rs136281349021:41,450,769G/T—uncertain significance
rs20160269021:41,450,777A/C—likely benign
rs121697266121:41,450,793A/G—uncertain significance
rs19983214921:41,450,804G/A—likely benign
rs75746233221:41,450,819G/A—likely benign
rs74537433521:41,452,079C/A—conflicting classifications of pathogenicity
rs145085096921:41,452,117C/T—uncertain significance
rs20042783321:41,452,119C/A—likely benign
rs251699225421:41,452,151T/C—uncertain significance
rs55512377521:41,452,214T/C—uncertain significance
rs130746444421:41,452,267C/T—uncertain significance
rs214656882821:41,455,850C/T—likely pathogenic
rs20067002521:41,457,598C/T—likely benign
rs20200361721:41,457,618G/A—likely benign
rs77520701721:41,457,621C/A—uncertain significance
rs19989766121:41,457,689G/A—likely benign
rs251700934721:41,459,126A/G—likely benign
rs251700951321:41,459,176T/C—uncertain significance
rs78087105021:41,465,644C/G—uncertain significance
rs147560234321:41,465,649T/A—uncertain significance
rs160132332821:41,465,657G/A—likely benign
rs6223759421:41,465,664G/A—likely benign
rs77255382721:41,465,666C/T—uncertain significance
rs54948237521:41,465,723C/T—likely benign
rs208964150621:41,465,742A/T—uncertain significance
rs4144525121:41,465,748G/A—benign
rs11615756921:41,465,793G/A—benign
rs19000141421:41,465,796G/C—likely benign
rs37127166321:41,496,150G/A—uncertain significance
rs86778758621:41,496,160G/A—uncertain significance
rs86866534821:41,496,210G/T—uncertain significance
rs75708199121:41,496,222G/A—uncertain significance
rs74590474721:41,496,224C/T—benign
rs20168058521:41,496,241C/T—uncertain significance
rs54651648421:41,505,772G/A—likely benign
rs96122809121:41,505,792G/C—uncertain significance
rs251715533721:41,505,798G/A—uncertain significance
rs76947705721:41,505,832C/T—uncertain significance
rs37109215621:41,514,552G/A—likely benign
rs128717578221:41,514,578T/C—uncertain significance
rs37186645821:41,514,640A/G—likely benign
rs76196928821:41,516,463T/A—uncertain significance
rs18601492721:41,516,464G/A—likely benign
rs137787657321:41,516,526G/C—uncertain significance
rs251719873921:41,516,572G/C—uncertain significance
rs209033431421:41,516,628T/A—likely benign
rs251726890321:41,539,160G/C—uncertain significance
rs146477126421:41,539,177T/G—uncertain significance

Showing 100 of 211 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.