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: rs869312821
rs869312821
7 0.882 0.120 1 1806515 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs869312824
rs869312824
14 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs869312825
rs869312825
11 0.827 0.120 1 1804548 start lost T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs869312826
rs869312826
6 0.882 0.080 1 1787378 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0