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: rs764786986
rs764786986
1 1.000 20 5100921 missense variant C/A;T snv 4.0E-06; 2.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs1056737920
rs1056737920
1 1.000 20 5109345 missense variant T/C snv 1.4E-05 0.700 0
dbSNP: rs1272596579
rs1272596579
1 1.000 20 5112983 missense variant C/A;T snv 6.7E-06; 1.3E-05 0.010 1.000 1 2018 2018