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: rs3768321
rs3768321
5 1.000 0.080 1 39570256 intron variant G/T snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs41264487
rs41264487
1 1 39571682 synonymous variant C/G;T snv 0.13; 4.9E-05 0.700 1.000 1 2018 2018