Source: ALL
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: rs121909149
rs121909149
SH3BP2
2 0.925 0.160 4 2831573 missense variant G/A;C snv 0.020 1.000 2 2012 2014