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: rs6596
rs6596
2 1.000 0.040 16 50675812 missense variant G/A;C snv 0.11; 8.0E-06 0.700 1.000 1 2016 2016