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: rs200154873
rs200154873
1 1.000 0.040 1 247418855 missense variant G/A;C snv 3.2E-05 0.800 1.000 1 2018 2018
dbSNP: rs28937896
rs28937896
6 0.807 0.120 1 247424507 missense variant T/C snv 0.700 0