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: rs121917769
rs121917769
2 0.925 0.240 16 20348925 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs188709583
rs188709583
3 1.000 16 20337383 missense variant C/A;T snv 4.0E-06; 1.3E-04 0.010 1.000 1 2019 2019
dbSNP: rs768597701
rs768597701
1 1.000 16 20349795 missense variant C/T snv 5.4E-05 0.010 1.000 1 2018 2018