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: rs41315846
rs41315846
3 1 247549001 intron variant T/C snv 0.44 0.52 0.700 1.000 2 2016 2016
dbSNP: rs1050316
rs1050316
3 1 156464911 3 prime UTR variant G/T snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs10914144
rs10914144
3 1 171980610 intron variant T/C snv 0.78 0.800 1.000 1 2011 2011
dbSNP: rs10919585
rs10919585
1 1 198806192 intron variant T/C snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs11121845
rs11121845
1 1 11968598 intron variant C/T snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs111941366
rs111941366
2 1 25409878 intron variant C/T snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs11240408
rs11240408
1 1 205295408 intergenic variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12041331
rs12041331
11 0.776 0.200 1 156899922 intron variant G/A snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs12096438
rs12096438
2 1 25562931 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs144084486
rs144084486
1 1 247440079 intron variant CGTGTTAGGTATAGCCTA/-;CGTGTTAGGTATAGCCTACGTGTTAGGTATAGCCTA delins 0.61 0.700 1.000 1 2016 2016
dbSNP: rs1538970
rs1538970
1 1 45381890 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1668871
rs1668871
2 1 205268009 intron variant T/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs2208368
rs2208368
1 1 171923265 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2336384
rs2336384
2 1.000 0.040 1 11986006 intron variant G/T snv 0.65 0.800 1.000 1 2011 2011
dbSNP: rs2932536
rs2932536
1 1 112659795 intron variant G/A snv 0.50 0.51 0.700 1.000 1 2016 2016
dbSNP: rs3123543
rs3123543
13 1 212617344 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs34660448
rs34660448
1 1 154185373 intron variant AAAAAAAAAA/-;AAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs370869951
rs370869951
1 1 150355421 downstream gene variant AAAA/-;A;AAA;AAAAA;AAAAAA;AAAAAAAAAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs3811444
rs3811444
12 1 247876149 missense variant C/T snv 0.31 0.26 0.800 1.000 1 2011 2011
dbSNP: rs4631704
rs4631704
1 1 230157783 intron variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4846217
rs4846217
1 1 10391742 upstream gene variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs4925747
rs4925747
1 1 247873252 intron variant G/A snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs4925750
rs4925750
1 1 247875023 intron variant T/C snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs56043070
rs56043070
4 1 247556467 splice donor variant G/A;T snv 5.2E-02; 4.1E-06 0.700 1.000 1 2016 2016
dbSNP: rs56125409
rs56125409
1 1 171960311 intron variant A/G snv 0.11 0.700 1.000 1 2016 2016