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: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.040 1.000 4 2001 2018
dbSNP: rs190783615
rs190783615
3 0.925 0.040 X 142772620 intergenic variant T/C snv 9.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs2072621
rs2072621
7 0.851 0.080 X 151177387 non coding transcript exon variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.040 0.500 4 2008 2015
dbSNP: rs114465512
rs114465512
3 1.000 0.040 22 22047895 intron variant C/T snv 4.7E-03 0.700 1.000 1 2016 2016
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs1445081098
rs1445081098
17 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs190544851
rs190544851
2 1.000 0.040 21 38360474 intergenic variant T/G snv 4.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs143934587
rs143934587
3 0.925 0.040 20 19165806 intergenic variant G/A snv 9.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs183042538
rs183042538
3 0.925 0.040 20 41197420 intron variant A/T snv 3.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs4578918
rs4578918
2 1.000 0.040 20 46093017 upstream gene variant T/C snv 0.77 0.700 1.000 1 2018 2018
dbSNP: rs6063349
rs6063349
3 0.925 0.040 20 49065345 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs6074013
rs6074013
2 1.000 0.040 20 46080900 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs6130328
rs6130328
2 1.000 0.040 20 43256482 intergenic variant G/A snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs10405382
rs10405382
2 1.000 0.040 19 32405810 5 prime UTR variant C/G snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs138472420
rs138472420
3 1.000 0.040 19 47657765 intron variant G/A snv 3.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs8100891
rs8100891
3 1.000 0.040 19 32338607 intergenic variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs11152363
rs11152363
2 1.000 0.040 18 55389957 intron variant G/A snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs11663393
rs11663393
DCC
2 1.000 0.040 18 53088362 intron variant G/A snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs11664123
rs11664123
DCC
2 1.000 0.040 18 53440658 intron variant T/C snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs117198528
rs117198528
3 1.000 0.040 18 49694188 intergenic variant T/G snv 1.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs12457157
rs12457157
2 1.000 0.040 18 55629696 intron variant G/A snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs1261070
rs1261070
2 1.000 0.040 18 55235854 intron variant A/G snv 0.94 0.700 1.000 1 2018 2018
dbSNP: rs1261114
rs1261114
2 1.000 0.040 18 55271138 intron variant G/A snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs12963463
rs12963463
3 1.000 0.040 18 55431862 intron variant C/G;T snv 0.700 1.000 1 2018 2018