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: rs11591147
rs11591147
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.760 0.857 7 2008 2019
dbSNP: rs1801253
rs1801253
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.740 1.000 5 2006 2019
dbSNP: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.720 1.000 3 2019 2019
dbSNP: rs10911021
rs10911021
11 0.807 0.160 1 182112825 intron variant C/T snv 0.36 0.710 1.000 2 2013 2016
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.710 1.000 2 2014 2019
dbSNP: rs688
rs688
16 0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34 0.710 1.000 2 2008 2014
dbSNP: rs7412
rs7412
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.710 1.000 2 2016 2019
dbSNP: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.710 1.000 2 2013 2019
dbSNP: rs1047964
rs1047964
3 11 117286177 3 prime UTR variant G/A;C;T snv 0.710 1.000 1 2011 2011
dbSNP: rs1406961
rs1406961
2 20 63264568 intron variant A/C snv 0.87 0.710 1.000 1 2011 2011
dbSNP: rs2143678
rs2143678
2 6 41655295 downstream gene variant G/T snv 0.19 0.710 1.000 1 2011 2011
dbSNP: rs4975709
rs4975709
2 5 1877166 downstream gene variant A/C;T snv 0.710 1.000 1 2011 2011
dbSNP: rs7698623
rs7698623
2 4 87834676 intron variant T/A;C snv 6.1E-05; 0.94 0.710 1.000 1 2011 2011
dbSNP: rs10042590
rs10042590
1 5 88477501 intron variant G/A snv 5.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs10059884
rs10059884
5 5 32832368 regulatory region variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1009358
rs1009358
2 1.000 0.080 2 65049318 intron variant T/C snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs10107066
rs10107066
1 8 26542619 intron variant G/C snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs10224210
rs10224210
9 1.000 0.040 7 151716108 intron variant T/C snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs1030431
rs1030431
3 8 58399138 intergenic variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10409243
rs10409243
6 19 10222312 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1044486
rs1044486
1 17 78796097 3 prime UTR variant G/A snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs1048070
rs1048070
1 9 14735055 3 prime UTR variant T/C snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs10500326
rs10500326
1 16 4868325 intron variant G/T snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs10740995
rs10740995
1 10 18156159 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1074703
rs1074703
1 8 101803258 intron variant C/A snv 0.63 0.700 1.000 1 2019 2019