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: rs28933386
rs28933386
15 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 20 1968 2016
dbSNP: rs397507520
rs397507520
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 1.000 20 1968 2016
dbSNP: rs397507529
rs397507529
5 0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 0.700 1.000 20 1968 2016
dbSNP: rs397507531
rs397507531
18 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 1.000 20 1968 2016