Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894340
rs104894340
5 0.827 0.200 12 57751647 missense variant C/A;T snv 0.740 0.600 1 2003 2014