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: rs1800477
rs1800477
12 0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03 0.020 1.000 2 2007 2007
dbSNP: rs370426812
rs370426812
FAS
4 0.882 0.200 10 89014312 synonymous variant G/A snv 4.0E-05 3.5E-05 0.020 1.000 2 2007 2007
dbSNP: rs147740818
rs147740818
2 0.925 0.200 7 55142324 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2019 2019
dbSNP: rs750713244
rs750713244
4 0.925 0.200 7 55157753 missense variant A/G snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs768735314
rs768735314
1 1.000 0.120 7 55163772 synonymous variant G/A snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs771293553
rs771293553
EGF
1 1.000 0.120 4 109913378 missense variant T/A;C snv 0.010 1.000 1 2007 2007