Source: CURATED ×
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: rs1800407
rs1800407
OCA2
5 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.710 1.000 1 2009 2019
dbSNP: rs35063026
rs35063026
SPATA33
3 0.925 0.080 16 89669749 3 prime UTR variant C/T snv 4.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs35324266
rs35324266 		1 1.000 0.040 6 32625467 upstream gene variant C/T snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs4455710
rs4455710
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
1 1.000 0.040 6 32641081 intron variant C/T snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs4785204
rs4785204
HEATR3
2 1.000 0.040 16 50069823 intron variant C/T snv 8.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs4822983
rs4822983
CHEK2
2 0.925 0.080 22 28719078 intron variant C/T snv 0.33 0.700 1.000 1 2012 2012
dbSNP: rs646776
rs646776
CELSR2
15 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.700 1.000 1 2012 2012
dbSNP: rs7412
rs7412
APOE
23 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs779417284
rs779417284
PTCH1
1 1.000 0.040 9 95449149 missense variant C/T snv 2.4E-05 0.700 0
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
20 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.710 1.000 2 2009 2019
dbSNP: rs1050631
rs1050631
SLC39A6
2 0.882 0.080 18 36114157 synonymous variant G/A snv 0.33 0.30 0.800 1.000 1 2013 2013
dbSNP: rs121913230
rs121913230
EGFR ; EGFR-AS1
1 1.000 0.040 7 55181437 missense variant G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs121913431
rs121913431
EGFR ; EGFR-AS1
1 1.000 0.040 7 55181438 missense variant G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs1460816
rs1460816
BRCA2
1 1.000 0.040 13 32354271 intron variant G/A snv 0.54 0.700 1.000 1 2019 2019
dbSNP: rs149906873
rs149906873
OCA2
1 1.000 0.040 15 28088564 intron variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs2239612
rs2239612
ST6GAL1
2 1.000 0.040 3 187075454 intron variant G/A snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs2285947
rs2285947
DNAH11
3 0.807 0.120 7 21544470 intron variant G/A snv 0.44 0.800 1.000 1 2012 2012
dbSNP: rs2494938
rs2494938
LRFN2
3 0.752 0.240 6 40568389 intron variant G/A snv 0.51 0.800 1.000 1 2012 2012
dbSNP: rs7242481
rs7242481
SLC39A6 ; ELP2
1 0.925 0.080 18 36129254 5 prime UTR variant G/A snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs72928038
rs72928038
BACH2
19 0.695 0.360 6 90267049 intron variant G/A snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs9557210
rs9557210 		1 1.000 0.040 13 99395250 intergenic variant G/A snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs62246017
rs62246017
FOXP1
1 1.000 0.040 3 71433933 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs116150891
rs116150891
CDKN2A
1 1.000 0.040 9 21970929 missense variant G/A;C snv 5.6E-04 2.6E-03 0.700 0
dbSNP: rs62209647
rs62209647 		1 1.000 0.040 20 33917852 upstream gene variant G/C snv 4.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs9383064
rs9383064
DTNBP1 ; LOC105374947
1 1.000 0.040 6 15535090 intron variant G/C snv 0.24 0.700 1.000 1 2019 2019