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: rs35658696
rs35658696
PAM
3 1.000 0.080 5 103003107 missense variant A/G snv 3.1E-02 3.2E-02 0.710 1.000 1 2014 2018
dbSNP: rs78408340
rs78408340
PAM
2 1.000 0.080 5 103003035 missense variant C/G;T snv 3.7E-03; 8.1E-06 0.710 1.000 1 2014 2018
dbSNP: rs72783884
rs72783884
PAM
1 1.000 0.080 5 102912212 intron variant A/T snv 6.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs7729395
rs7729395
PAM
2 1.000 0.080 5 102764872 intron variant C/T snv 3.1E-02 0.700 1.000 1 2018 2018