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: rs104894763
rs104894763
2 0.925 0.160 X 50910985 missense variant C/T snv 7.0E-04 5.6E-04 0.700 0
dbSNP: rs104894766
rs104894766
2 0.925 0.160 X 50911009 missense variant C/T snv 4.1E-04 2.9E-04 0.700 0
dbSNP: rs137853320
rs137853320
1 1.000 0.160 X 50916059 stop gained C/T snv 5.5E-06 0.700 0