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: rs2125685
rs2125685
1 1.000 0.040 1 161673254 intron variant A/G;T snv 0.20 0.43 0.010 1.000 1 2012 2012
dbSNP: rs2229092
rs2229092
1 1.000 0.040 6 31572980 missense variant A/C snv 4.7E-02 4.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs2392510
rs2392510
1 1.000 0.040 7 37706967 intron variant C/T snv 0.47 0.010 1.000 1 2015 2015
dbSNP: rs9446777
rs9446777
1 1.000 0.040 6 72871328 intron variant A/G snv 9.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs1027009063
rs1027009063
2 0.925 0.040 2 8802974 stop gained G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1035029
rs1035029
C5
2 1.000 0.040 9 120980540 intron variant G/A snv 0.63 0.010 1.000 1 2010 2010
dbSNP: rs10760187
rs10760187
2 0.925 0.040 9 121803541 intergenic variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs11084095
rs11084095
2 0.925 0.040 19 51623777 intron variant G/A snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs11621969
rs11621969
2 0.925 0.040 14 75347325 intergenic variant T/C snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs11800854
rs11800854
2 0.925 0.040 1 233584238 intergenic variant G/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs13145041
rs13145041
2 0.925 0.040 4 189616909 intergenic variant A/C;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs13237474
rs13237474
2 0.925 0.040 7 135816721 intron variant C/T snv 2.3E-02 0.700 1.000 1 2013 2013
dbSNP: rs1370967
rs1370967
2 0.925 0.040 5 111203694 intergenic variant G/A snv 7.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs1397780760
rs1397780760
2 0.925 0.160 17 40884835 stop gained G/T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs17879146
rs17879146
2 0.925 0.040 17 78223864 3 prime UTR variant T/G snv 1.2E-02 1.2E-02 0.700 1.000 1 2013 2013
dbSNP: rs1932040
rs1932040
2 0.925 0.040 6 45729051 TF binding site variant A/G snv 0.69 0.700 1.000 1 2012 2012
dbSNP: rs1953021
rs1953021
2 0.925 0.040 9 12914397 intergenic variant G/T snv 0.69 0.700 1.000 1 2013 2013
dbSNP: rs2569991
rs2569991
2 0.925 0.040 3 12881698 intron variant C/A snv 0.72 0.700 1.000 1 2013 2013
dbSNP: rs2723183
rs2723183
2 1.000 0.040 2 112917144 missense variant A/G snv 6.8E-02 1.0E-01 0.010 1.000 1 2020 2020
dbSNP: rs2738058
rs2738058
2 0.925 0.160 8 6964095 upstream gene variant T/C snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs4284742
rs4284742
2 0.925 0.040 19 51628480 intron variant A/G snv 0.78 0.010 1.000 1 2017 2017
dbSNP: rs6802315
rs6802315
2 0.925 0.040 3 158796571 intron variant T/A snv 0.59 0.700 1.000 1 2013 2013
dbSNP: rs6815464
rs6815464
2 0.925 0.120 4 1316113 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs6885116
rs6885116
2 0.925 0.040 5 168216540 intron variant A/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs7086701
rs7086701
2 0.925 0.040 10 10298081 intergenic variant G/A;T snv 0.700 1.000 1 2019 2019