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: rs397514632
rs397514632
5 0.827 0.160 19 50406456 missense variant G/A snv 0.010 < 0.001 1 2020 2020
dbSNP: rs587777627
rs587777627
7 0.807 0.080 19 50406444 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs767449295
rs767449295
2 0.925 0.080 19 50402669 missense variant C/T snv 1.7E-05 2.8E-05 0.010 1.000 1 2014 2014