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: rs397518452
rs397518452
2 0.925 0.080 12 54283845 missense variant A/T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs483353029
rs483353029
1 1.000 0.080 12 54283883 missense variant C/T snv 0.010 1.000 1 2018 2018