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: rs11842874
rs11842874
1 1.000 0.040 13 113040195 intron variant A/G snv 0.12 0.810 1.000 2 2011 2015
dbSNP: rs12982744
rs12982744
4 0.925 0.040 19 2177194 intron variant C/A;G;T snv 0.810 1.000 2 2012 2018
dbSNP: rs3815148
rs3815148
1 1.000 0.040 7 107297975 intron variant A/C snv 0.20 0.810 1.000 1 2010 2010
dbSNP: rs4730250
rs4730250
1 1.000 0.040 7 107567250 intron variant A/G snv 0.12 0.810 1.000 1 2011 2011
dbSNP: rs10948172
rs10948172
3 0.882 0.040 6 44809954 intron variant A/G snv 0.27 0.800 1.000 1 2012 2012
dbSNP: rs11177
rs11177
4 0.851 0.080 3 52687289 missense variant G/A snv 0.38 0.33 0.800 1.000 1 2012 2012
dbSNP: rs1417066
rs1417066
1 1.000 0.040 1 219500486 intergenic variant G/A snv 0.43 0.800 1.000 1 2012 2012
dbSNP: rs6094710
rs6094710
1 1.000 0.040 20 47466905 intergenic variant G/A snv 5.0E-02 0.720 1.000 3 2014 2018
dbSNP: rs10492367
rs10492367
3 0.882 0.040 12 27862037 regulatory region variant G/T snv 0.12 0.710 1.000 2 2012 2018
dbSNP: rs532464664
rs532464664
3 0.882 0.040 22 41238083 frameshift variant -/GCCCGCGC delins 4.8E-03 1.2E-02 0.710 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 2 2018 2019
dbSNP: rs3771501
rs3771501
2 0.925 0.040 2 70490521 intron variant A/G snv 0.60 0.700 1.000 2 2018 2019
dbSNP: rs10172410
rs10172410
1 1.000 0.040 2 181487841 intron variant T/C snv 0.45 0.700 1.000 1 2011 2011
dbSNP: rs10218792
rs10218792
1 1.000 0.040 1 245587630 intron variant T/G snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs1034762
rs1034762
1 1.000 0.040 12 47995860 intron variant A/C snv 0.74 0.79 0.700 1.000 1 2012 2012
dbSNP: rs10502437
rs10502437
1 1.000 0.040 18 23390742 intron variant G/A snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs10654220
rs10654220
2 1.000 0.040 12 123218875 intron variant -/TGT;TGTTGT delins 0.700 1.000 1 2019 2019
dbSNP: rs10948155
rs10948155
1 1.000 0.040 6 44720220 intergenic variant T/C snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs10974438
rs10974438
3 0.925 0.120 9 4291928 intron variant A/C snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs11031191
rs11031191
1 1.000 0.040 11 30752733 intergenic variant G/C;T snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs11107957
rs11107957
1 1.000 0.040 12 78038275 intron variant A/C snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs1126464
rs1126464
4 1.000 0.040 16 89637957 missense variant G/A;C snv 1.3E-05; 0.26 0.700 1.000 1 2019 2019
dbSNP: rs11409738
rs11409738
1 1.000 0.040 7 96090522 intron variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs1149620
rs1149620
1 1.000 0.040 11 76795528 intron variant T/A snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs115740542
rs115740542
2 0.925 0.040 6 26123274 intron variant T/C snv 3.6E-02 0.700 1.000 1 2019 2019