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: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 2 2015 2017
dbSNP: rs10131032
rs10131032
2 1.000 0.040 14 32780875 intron variant G/A snv 9.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs10494090
rs10494090
2 1.000 0.040 1 108150714 intron variant A/C;G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1057519903
rs1057519903
28 0.683 0.080 1 226064434 missense variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs10852606
rs10852606
4 0.882 0.040 16 50094961 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs10924303
rs10924303
2 1.000 0.040 1 245683732 intron variant C/T snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs10924690
rs10924690
2 1.000 0.040 1 246320481 intron variant G/A snv 0.20 0.700 1.000 1 2009 2009
dbSNP: rs11163687
rs11163687
2 1.000 0.040 1 83199436 intergenic variant A/G snv 9.6E-02 0.700 1.000 1 2009 2009
dbSNP: rs11166389
rs11166389
2 1.000 0.040 1 100000723 non coding transcript exon variant G/A snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs111696067
rs111696067
2 1.000 0.040 12 132799954 intron variant T/C snv 5.3E-04 0.700 1.000 1 2015 2015
dbSNP: rs11233250
rs11233250
4 0.882 0.040 11 82685972 intron variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.060 1.000 6 2014 2019
dbSNP: rs11583706
rs11583706
2 1.000 0.040 1 238358337 intron variant G/T snv 0.17 0.700 1.000 1 2009 2009
dbSNP: rs11598018
rs11598018
2 1.000 0.040 10 103901557 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11599775
rs11599775
2 1.000 0.040 10 112699938 intron variant G/A snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs11615
rs11615
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2017 2017
dbSNP: rs11706832
rs11706832
2 1.000 0.040 3 66452557 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs11979158
rs11979158
5 0.882 0.040 7 55091656 intron variant A/G;T snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs12021720
rs12021720
DBT
3 0.925 0.160 1 100206504 missense variant T/A;C snv 0.92 0.700 1.000 1 2009 2009
dbSNP: rs12076373
rs12076373
2 1.000 0.040 1 243688645 intron variant G/C snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs12088062
rs12088062
2 1.000 0.040 1 244811284 intergenic variant C/T snv 0.20 0.700 1.000 1 2009 2009
dbSNP: rs12125049
rs12125049
2 1.000 0.040 1 60202030 intergenic variant C/T snv 0.12 0.700 1.000 1 2009 2009
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.060 1.000 6 2014 2019
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs12230172
rs12230172
4 0.882 0.040 12 75848895 intron variant A/G snv 0.48 0.700 1.000 1 2015 2015