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: rs445
rs445
9 7 92779056 intron variant C/T snv 0.14 0.800 1.000 4 2011 2019
dbSNP: rs12619285
rs12619285
3 1.000 0.040 2 212959321 intron variant A/G snv 0.31 0.800 1.000 3 2009 2019
dbSNP: rs4328821
rs4328821
3 3 128597592 intergenic variant A/G snv 0.13 0.800 1.000 3 2011 2017
dbSNP: rs10062687
rs10062687
1 5 10624754 missense variant T/G snv 0.18 0.20 0.700 1.000 2 2016 2019
dbSNP: rs1036332
rs1036332
3 1 199043349 intron variant A/C snv 0.70 0.700 1.000 2 2016 2019
dbSNP: rs1057258
rs1057258
3 2 233206983 3 prime UTR variant C/T snv 0.30 0.700 1.000 2 2016 2019
dbSNP: rs10893844
rs10893844
2 11 128315955 regulatory region variant G/C snv 0.36 0.700 1.000 2 2016 2019
dbSNP: rs11204682
rs11204682
4 1 150623061 intron variant G/A;T snv 0.700 1.000 2 2016 2019
dbSNP: rs112401631
rs112401631
8 0.882 0.120 17 40608272 TF binding site variant T/A snv 1.1E-02 0.700 1.000 2 2016 2019
dbSNP: rs113473633
rs113473633
4 1.000 0.040 4 102527974 intron variant A/G snv 1.6E-02 0.700 1.000 2 2016 2019
dbSNP: rs114269697
rs114269697
3 1.000 0.040 1 64848529 intron variant C/A snv 7.3E-03 0.700 1.000 2 2016 2019
dbSNP: rs11555542
rs11555542
2 14 93951185 missense variant T/C snv 3.3E-02 3.7E-02 0.700 1.000 2 2016 2019
dbSNP: rs12440045
rs12440045
6 0.925 0.080 15 41490486 upstream gene variant A/C snv 0.67 0.700 1.000 2 2016 2019
dbSNP: rs12705849
rs12705849
1 7 113142501 intron variant G/A snv 0.32 0.700 1.000 2 2016 2019
dbSNP: rs12820863
rs12820863
2 12 4209557 intergenic variant C/T snv 0.27 0.700 1.000 2 2016 2019
dbSNP: rs13089722
rs13089722
1 3 128587914 regulatory region variant G/A snv 0.11 0.700 1.000 2 2017 2019
dbSNP: rs150640087
rs150640087
2 7 50376454 intron variant G/T snv 1.0E-02 0.700 1.000 2 2016 2019
dbSNP: rs159963
rs159963
3 1.000 0.040 1 8444361 intron variant C/A snv 0.52 0.700 1.000 2 2016 2019
dbSNP: rs16917546
rs16917546
6 0.851 0.040 10 62637778 intron variant T/C snv 0.29 0.700 1.000 2 2018 2019
dbSNP: rs1695315
rs1695315
1 3 3111655 intron variant G/A snv 0.56 0.700 1.000 2 2016 2019
dbSNP: rs174548
rs174548
17 0.851 0.160 11 61803876 5 prime UTR variant C/G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs175705
rs175705
2 14 75509305 intergenic variant C/A;G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs17758695
rs17758695
10 18 63253621 intron variant C/T snv 2.1E-02 0.700 1.000 2 2016 2019
dbSNP: rs2075995
rs2075995
3 1 23520972 missense variant C/A snv 0.45 0.39 0.700 1.000 2 2016 2019
dbSNP: rs2228467
rs2228467
8 1.000 0.080 3 42864624 missense variant T/C snv 5.1E-02 4.7E-02 0.700 1.000 2 2016 2019