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: rs121908062
rs121908062
1 1.000 0.080 17 4933350 missense variant G/T snv 0.820 1.000 6 1991 2019
dbSNP: rs121908064
rs121908064
3 1.000 0.080 17 4933367 missense variant A/G snv 0.820 1.000 6 1991 2019