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: rs10760187
rs10760187
2 0.925 0.040 9 121803541 intergenic variant T/A;C snv 0.700 1.000 1 2012 2012
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: 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: rs2737190
rs2737190
6 0.827 0.120 9 117701903 upstream gene variant G/A snv 0.52 0.010 1.000 1 2019 2019
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: rs6681231
rs6681231
5 0.882 0.120 1 186690727 intergenic variant G/C snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs7086701
rs7086701
2 0.925 0.040 10 10298081 intergenic variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7567687
rs7567687
2 0.925 0.040 2 129276753 upstream gene variant C/T snv 0.43 0.700 1.000 1 2013 2013
dbSNP: rs7762544
rs7762544
3 0.882 0.040 6 41411577 intergenic variant G/A snv 0.81 0.800 1.000 1 2013 2013
dbSNP: rs9984417
rs9984417
2 0.925 0.040 21 22474790 intergenic variant A/T snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs3826782
rs3826782
3 0.882 0.040 19 6887725 intron variant G/A snv 8.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs7412
rs7412
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.010 1.000 1 2015 2015
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: 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: rs17611
rs17611
C5
14 0.732 0.480 9 121006922 missense variant C/T snv 0.47 0.36 0.010 1.000 1 2010 2010
dbSNP: rs25681
rs25681
C5
3 0.882 0.120 9 121017727 synonymous variant G/A snv 0.47 0.35 0.010 1.000 1 2010 2010
dbSNP: rs992670
rs992670
C5
3 0.882 0.120 9 121019492 intron variant G/A snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs333
rs333
23 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs2569190
rs2569190
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.030 0.667 3 2016 2019
dbSNP: rs1333048
rs1333048
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.010 1.000 1 2015 2015