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: rs863224872
rs863224872
1 1.000 0.120 12 4372649 missense variant C/T snv 0.700 0
dbSNP: rs104894344
rs104894344
2 0.925 0.120 12 4370713 missense variant G/A snv 0.020 1.000 2 2016 2016
dbSNP: rs267606841
rs267606841
5 0.882 0.120 2 165749801 missense variant A/C snv 0.010 1.000 1 2014 2014