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: rs10919388
rs10919388
4 1 170403362 intergenic variant A/C snv 0.71 0.700 1.000 1 2017 2017
dbSNP: rs13192994
rs13192994
1 6 75529546 intergenic variant A/C snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs185829646
rs185829646
1 10 88823948 intron variant A/C snv 7.9E-04 0.700 1.000 1 2018 2018
dbSNP: rs2030323
rs2030323
6 0.925 0.080 11 27706992 intron variant A/C snv 0.83 0.700 1.000 1 2017 2017
dbSNP: rs2546057
rs2546057
3 1.000 0.040 19 33829949 intergenic variant A/C snv 0.41 0.700 1.000 1 2017 2017
dbSNP: rs2871960
rs2871960
3 3 141402972 5 prime UTR variant A/C snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs606452
rs606452
4 1.000 0.040 11 75565133 intron variant A/C snv 0.78 0.700 1.000 1 2017 2017
dbSNP: rs6437061
rs6437061
3 2 232320342 intron variant A/C snv 0.56 0.700 1.000 1 2017 2017
dbSNP: rs743580
rs743580
PML
1 15 74035775 missense variant A/C;G snv 0.52 0.700 1.000 2 2018 2018
dbSNP: rs159544
rs159544
1 5 61193420 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2033529
rs2033529
4 6 40380914 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs2820436
rs2820436
4 0.882 0.040 1 219467338 intergenic variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs6090583
rs6090583
3 20 46930192 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs780159
rs780159
2 10 79147390 intron variant A/C;G snv 0.700 1.000 1 2017 2017
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: rs6864049
rs6864049
2 5 124994829 intron variant A/C;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: rs1563352
rs1563352
1 1 219479453 intergenic variant A/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7550173
rs7550173
2 1 72478934 intron variant A/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs10786152
rs10786152
1 10 94133757 intron variant A/G snv 0.49 0.700 1.000 1 2017 2017
dbSNP: rs10938397
rs10938397
19 0.851 0.200 4 45180510 intergenic variant A/G snv 0.37 0.700 1.000 1 2017 2017
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: rs11694842
rs11694842
2 2 25260101 intron variant A/G snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs12406019
rs12406019
2 1 78212446 intergenic variant A/G snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs13083798
rs13083798
3 3 52615732 intron variant A/G snv 0.51 0.700 1.000 1 2017 2017