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: rs3791979
rs3791979
3 1.000 0.040 2 217802649 3 prime UTR variant T/A;C;G snv 0.700 1.000 3 2018 2018
dbSNP: rs1035673
rs1035673
1 2 217810810 intron variant T/C snv 0.65 0.700 1.000 1 2017 2017
dbSNP: rs2571445
rs2571445
10 0.925 0.080 2 217818431 missense variant A/G;T snv 0.62 0.700 1.000 1 2018 2018