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: rs114291795
rs114291795
2 0.925 0.040 6 31409863 intron variant C/G snv 3.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs185386680
rs185386680
2 0.925 0.040 6 31207153 downstream gene variant A/G snv 1.2E-03 0.010 1.000 1 2016 2016
dbSNP: rs2596487
rs2596487
1 1.000 0.040 6 31357279 non coding transcript exon variant C/T snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs1736557
rs1736557
2 0.925 0.160 1 171110939 missense variant G/A snv 8.2E-02 6.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs2228391
rs2228391
3 0.882 0.160 6 32829996 missense variant T/C snv 1.3E-02 3.9E-03 0.010 1.000 1 2017 2017
dbSNP: rs1127354
rs1127354
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2009 2009
dbSNP: rs116855232
rs116855232
12 0.742 0.400 13 48045719 missense variant C/T snv 2.8E-02 1.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2018 2018