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: rs868861597
rs868861597
2 0.925 0.120 17 80192587 missense variant G/A snv 4.0E-06 7.0E-06 0.020 0.500 2 1996 1998
dbSNP: rs368821179
rs368821179
3 0.925 0.160 17 80182758 missense variant T/C snv 8.0E-06 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs372805579
rs372805579
5 0.851 0.200 17 80195302 missense variant G/A snv 2.4E-05 2.8E-05 0.010 1.000 1 2013 2013