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: rs777169135
rs777169135
4 0.851 0.080 10 121488064 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1057519043
rs1057519043
4 0.851 0.120 10 121517391 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121913474
rs121913474
9 0.790 0.200 10 121515260 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs121918505
rs121918505
5 0.851 0.080 10 121520119 missense variant A/G snv 0.010 1.000 1 2019 2019