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: rs11741704
rs11741704
1 5 8116712 intergenic variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs117911989
rs117911989
2 7 131285034 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs13188458
rs13188458
4 0.882 0.160 5 8127718 intergenic variant T/G snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs7273292
rs7273292
2 20 21492724 upstream gene variant T/C snv 9.3E-03 0.700 1.000 1 2019 2019
dbSNP: rs55657917
rs55657917
1 17 45767194 intron variant T/G snv 0.14 0.700 1.000 2 2018 2018
dbSNP: rs59499656
rs59499656
1 18 43188344 intergenic variant A/T snv 0.43 0.700 1.000 2 2018 2018
dbSNP: rs743580
rs743580
PML
1 15 74035775 missense variant A/C;G snv 0.52 0.700 1.000 2 2018 2018
dbSNP: rs1043595
rs1043595
2 7 128769958 3 prime UTR variant G/A snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs10849145
rs10849145
1 12 4808002 intron variant T/C snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs10946808
rs10946808
5 1.000 0.040 6 26233159 non coding transcript exon variant A/G snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs111901094
rs111901094
1 19 19402761 intron variant G/T snv 4.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs11913445
rs11913445
1 22 20154990 upstream gene variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1248860
rs1248860
2 1.000 0.040 3 84966628 intron variant G/A snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs13243553
rs13243553
1 7 133822202 intron variant G/A snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs149943
rs149943
1 6 28034610 non coding transcript exon variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs159544
rs159544
1 5 61193420 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs166840
rs166840
2 17 19896385 downstream gene variant G/A snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs169504
rs169504
1 6 32185629 3 prime UTR variant C/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs17551090
rs17551090
1 5 88741392 intron variant T/A snv 7.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs181220614
rs181220614
1 3 154089125 intron variant C/G snv 6.7E-03 0.700 1.000 1 2018 2018
dbSNP: rs1858242
rs1858242
1 3 68477984 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs185829646
rs185829646
1 10 88823948 intron variant A/C snv 7.9E-04 0.700 1.000 1 2018 2018
dbSNP: rs2035562
rs2035562
1 3 85007370 intron variant A/G snv 0.74 0.700 1.000 1 2018 2018
dbSNP: rs25981
rs25981
1 5 107487207 intron variant G/C snv 0.60 0.700 1.000 1 2018 2018
dbSNP: rs26579
rs26579
1 5 88689478 intron variant G/C snv 0.46 0.700 1.000 1 2018 2018