Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852814
rs137852814
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C1853638
Disease: Broad neck
Broad neck
0.700 0