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: rs2785988
rs2785988
2 0.925 0.040 1 219570796 intergenic variant C/A snv 0.23 0.700 1.000 2 2018 2019
dbSNP: rs2820436
rs2820436
4 0.882 0.040 1 219467338 intergenic variant A/C;G snv 0.700 1.000 2 2018 2018
dbSNP: rs11583641
rs11583641
1 1.000 0.040 1 183937111 3 prime UTR variant C/A;T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs12040949
rs12040949
1 1.000 0.040 1 150474986 3 prime UTR variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs17887218
rs17887218
2 0.925 0.040 1 91714361 intron variant C/T snv 4.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs2126643
rs2126643
1 1.000 0.040 1 102938828 intron variant T/C snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs2622873
rs2622873
3 0.882 0.040 1 103000497 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2820443
rs2820443
8 0.882 0.120 1 219580167 regulatory region variant T/C snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs4338381
rs4338381
1 1.000 0.040 1 103107371 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12470967
rs12470967
2 0.925 0.040 2 191807255 intron variant A/G snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs3771501
rs3771501
2 0.925 0.040 2 70490521 intron variant A/G snv 0.60 0.700 1.000 1 2018 2018
dbSNP: rs3821262
rs3821262
2 0.925 0.040 2 70493874 intron variant A/G snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs4630744
rs4630744
2 0.925 0.040 2 33236308 intron variant A/G snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs7571789
rs7571789
1 1.000 0.040 2 70487661 intron variant T/C snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs6976
rs6976
2 0.851 0.080 3 52694788 3 prime UTR variant C/T snv 0.38 0.33 0.710 1.000 2 2015 2019
dbSNP: rs11177
rs11177
2 0.851 0.080 3 52687289 missense variant G/A snv 0.38 0.33 0.700 1.000 1 2018 2018
dbSNP: rs3774354
rs3774354
2 0.882 0.080 3 52783659 intron variant G/A snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs3774355
rs3774355
1 1.000 0.040 3 52783762 intron variant G/A snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs678
rs678
2 1.000 0.040 3 52786965 missense variant A/G;T snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs11732213
rs11732213
2 0.925 0.040 4 1702517 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs1913707
rs1913707
2 0.925 0.040 4 13037816 intergenic variant A/G snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs798748
rs798748
1 1.000 0.040 4 1715043 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs3884606
rs3884606
2 0.925 0.040 5 171444070 intron variant G/A snv 0.54 0.700 1.000 1 2019 2019
dbSNP: rs62406718
rs62406718
2 0.925 0.040 5 180923167 intron variant A/C;G snv 0.74 0.700 1.000 1 2018 2018
dbSNP: rs10948172
rs10948172
3 0.882 0.040 6 44809954 intron variant A/G snv 0.27 0.700 1.000 2 2018 2019