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: rs397517172
rs397517172
SOS1
2 0.925 0.160 2 39056704 missense variant T/C snv 0.700 1.000 21 2002 2016