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: rs743580
rs743580
PML
1 15 74035775 missense variant A/C;G snv 0.52 0.700 1.000 2 2018 2018
dbSNP: rs1046934
rs1046934
4 1.000 0.080 1 184054395 missense variant A/C;G;T snv 0.34; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs10482795
rs10482795
2 1 218432267 intron variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs10842707
rs10842707
4 12 26318431 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs10876528
rs10876528
2 12 54027692 intron variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10990303
rs10990303
1 9 95648123 upstream gene variant C/G;T snv 0.700 1.000 1 2017 2017
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: rs11897119
rs11897119
3 2 66544868 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11913445
rs11913445
1 22 20154990 upstream gene variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12330322
rs12330322
2 3 72406204 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1308362
rs1308362
2 3 138385085 intron variant A/G;T snv 0.700 1.000 1 2017 2017
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 2017 2017
dbSNP: rs13130484
rs13130484
7 1.000 0.080 4 45173674 intergenic variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs13404250
rs13404250
1 2 187251469 intron variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1443512
rs1443512
4 12 53948900 downstream gene variant A/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs149943
rs149943
1 6 28034610 non coding transcript exon variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1563352
rs1563352
1 1 219479453 intergenic variant A/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1594477
rs1594477
1 17 70511295 intergenic variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs159544
rs159544
1 5 61193420 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs17033702
rs17033702
1 2 67516476 intergenic variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1720825
rs1720825
2 3 138389241 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs17819328
rs17819328
4 3 12447843 intergenic variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs1858242
rs1858242
1 3 68477984 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1884897
rs1884897
5 20 6632185 regulatory region variant A/G;T snv 0.700 1.000 1 2017 2017