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: rs3749171
rs3749171
9 0.807 0.120 2 240630275 missense variant C/T snv 0.16; 9.4E-06 0.19 0.800 1.000 1 2012 2012
dbSNP: rs38904
rs38904
2 1.000 0.120 7 117252792 intergenic variant T/C snv 0.52 0.800 1.000 1 2012 2012
dbSNP: rs4246215
rs4246215
29 0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 0.800 1.000 1 2012 2012
dbSNP: rs4246905
rs4246905
16 0.716 0.400 9 114790969 missense variant T/A;C snv 0.76 0.800 1.000 1 2012 2012
dbSNP: rs4256159
rs4256159
2 1.000 0.040 3 18725912 intron variant C/A;G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs477515
rs477515
10 0.790 0.400 6 32601914 intergenic variant G/A snv 0.27 0.800 1.000 1 2008 2008
dbSNP: rs4836519
rs4836519
1 5 130681594 intron variant T/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs4899554
rs4899554
1 14 75234518 downstream gene variant C/T snv 0.14 0.800 1.000 1 2012 2012
dbSNP: rs4911259
rs4911259
1 20 32788476 intron variant T/G snv 0.42 0.800 1.000 1 2012 2012
dbSNP: rs5743289
rs5743289
2 1.000 0.040 16 50722863 intron variant C/G;T snv 0.800 1.000 1 2008 2008
dbSNP: rs6062504
rs6062504
3 0.925 0.040 20 63717555 intron variant A/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs6142618
rs6142618
1 20 32137845 intron variant A/G snv 0.69 0.800 1.000 1 2012 2012
dbSNP: rs630923
rs630923
2 1.000 0.080 11 118883644 upstream gene variant C/A snv 0.13 0.800 1.000 1 2012 2012
dbSNP: rs6478109
rs6478109
12 0.752 0.320 9 114806486 upstream gene variant A/G snv 0.74 0.800 1.000 1 2008 2008
dbSNP: rs6545800
rs6545800
1 2 24896016 intron variant C/T snv 0.53 0.800 1.000 1 2012 2012
dbSNP: rs6568421
rs6568421
2 1.000 0.040 6 105987150 regulatory region variant A/G snv 0.23 0.800 1.000 1 2012 2012
dbSNP: rs6592362
rs6592362
1 11 87414396 intergenic variant A/G snv 0.69 0.800 1.000 1 2012 2012
dbSNP: rs670523
rs670523
3 1.000 0.040 1 155908941 intron variant A/G snv 0.48 0.800 1.000 1 2012 2012
dbSNP: rs727088
rs727088
8 0.790 0.400 18 69863203 3 prime UTR variant G/A snv 0.47 0.800 1.000 1 2012 2012
dbSNP: rs16953946
rs16953946
1 16 80751551 intron variant T/A;C snv 0.710 1.000 1 2016 2016
dbSNP: rs3766920
rs3766920
1 1 154962487 3 prime UTR variant G/A snv 1.2E-03 0.710 1.000 1 2016 2016
dbSNP: rs6828740
rs6828740
2 1.000 0.120 4 117413463 non coding transcript exon variant T/C snv 5.8E-02 0.710 1.000 1 2014 2014
dbSNP: rs1003342
rs1003342
1 22 30174033 intron variant A/G snv 0.45 0.700 1.000 1 2015 2015
dbSNP: rs10051722
rs10051722
2 1.000 0.040 5 130768383 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs10061469
rs10061469
1 5 73222321 intron variant T/C snv 0.37 0.700 1.000 1 2015 2015