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: rs13107325
rs13107325
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs11171739
rs11171739
10 0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49 0.700 1.000 1 2018 2018
dbSNP: rs1569723
rs1569723
6 0.851 0.280 20 46113425 upstream gene variant C/A snv 0.80 0.700 1.000 1 2018 2018
dbSNP: rs1131017
rs1131017
5 0.925 0.160 12 56042145 5 prime UTR variant C/A;G;T snv 8.0E-06; 8.0E-06; 0.62; 1.1E-04 0.700 1.000 1 2018 2018
dbSNP: rs10937921
rs10937921
2 1.000 0.120 4 3274764 downstream gene variant C/T snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs13212562
rs13212562
4 0.925 0.120 6 27332531 intergenic variant A/G snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs133885
rs133885
2 1.000 0.120 22 25763322 missense variant G/A;C snv 0.55 0.800 1.000 1 2013 2013
dbSNP: rs198806
rs198806
4 0.925 0.120 6 26133388 intron variant A/G snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs204883
rs204883
2 1.000 0.120 6 32064966 missense variant G/A;C snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs2279574
rs2279574
8 0.827 0.120 12 89351700 missense variant C/A;T snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs613872
rs613872
6 0.851 0.120 18 55543071 intron variant G/T snv 0.88 0.700 1.000 1 2018 2018
dbSNP: rs642803
rs642803
4 0.925 0.120 11 65793149 intron variant C/T snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs10189857
rs10189857
6 1.000 0.080 2 60486100 intron variant A/G snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs1149558
rs1149558
3 0.925 0.080 7 133363002 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2239647
rs2239647
7 0.851 0.080 14 32823537 synonymous variant A/C snv 0.60 0.65 0.700 1.000 1 2018 2018
dbSNP: rs2629540
rs2629540
4 0.925 0.080 10 124737579 intron variant G/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs4918796
rs4918796
2 1.000 0.080 10 113120583 intron variant T/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs6503513
rs6503513
2 1.000 0.080 17 39405360 3 prime UTR variant A/G snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs7113976
rs7113976
2 1.000 0.080 11 86158695 regulatory region variant C/T snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs7659227
rs7659227
2 1.000 0.080 4 65630452 intron variant A/G snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs9217
rs9217
3 1.000 0.080 17 7459769 3 prime UTR variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs9388490
rs9388490
4 1.000 0.080 6 126383649 intron variant C/T snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs10098073
rs10098073
2 1.000 0.040 8 142228143 intron variant C/A snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs10752262
rs10752262
3 1.000 0.040 10 12353101 intron variant C/T snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs10789285
rs10789285
2 1.000 0.040 1 69322799 intergenic variant T/G snv 0.33 0.700 1.000 1 2018 2018