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: rs1135402761
rs1135402761
11 0.827 0.320 12 79448958 missense variant T/C snv 0.800 1.000 2 2015 2018
dbSNP: rs1565922388
rs1565922388
5 0.925 12 79353599 missense variant T/A snv 0.700 1.000 2 2015 2018
dbSNP: rs144900171
rs144900171
5 0.925 12 79448968 missense variant C/G;T snv 1.3E-04 6.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs1565922395
rs1565922395
5 0.925 12 79353602 missense variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs1565962725
rs1565962725
5 0.925 12 79448953 missense variant C/A snv 0.700 1.000 1 2018 2018