Source: ALL
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: rs1050631
rs1050631
SLC39A6
4 0.882 0.080 18 36114157 synonymous variant G/A snv 0.33 0.30 0.800 1.000 1 2013 2013
dbSNP: rs2285947
rs2285947
DNAH11
7 0.807 0.120 7 21544470 intron variant G/A snv 0.44 0.800 1.000 1 2012 2012
dbSNP: rs2494938
rs2494938
LRFN2
11 0.752 0.240 6 40568389 intron variant G/A snv 0.51 0.800 1.000 1 2012 2012
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.720 1.000 3 2014 2018
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
29 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.710 1.000 3 2009 2019
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.710 1.000 3 2011 2019
dbSNP: rs16891982
rs16891982
SLC45A2
13 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.710 1.000 2 2009 2016
dbSNP: rs1800407
rs1800407
OCA2
10 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.710 1.000 2 2009 2019
dbSNP: rs12296850
rs12296850 		3 0.925 0.080 12 100426307 downstream gene variant A/G snv 8.7E-02 0.710 1.000 1 2013 2013
dbSNP: rs267598140
rs267598140
DDR2
3 0.925 0.080 1 162778600 missense variant T/A;G snv 0.700 1.000 3 2008 2013
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs10810657
rs10810657 		7 0.827 0.080 9 16884588 regulatory region variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs11707807
rs11707807
LPP
1 1.000 0.040 3 188370473 intron variant A/G snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs117984432
rs117984432
ANKRD11
1 1.000 0.040 16 89388583 intron variant T/C snv 2.0E-02 0.700 1.000 1 2019 2019
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: rs1246946
rs1246946 		4 0.851 0.040 6 4979722 downstream gene variant C/T snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs12916300
rs12916300
HERC2
13 0.742 0.080 15 28165345 intron variant C/T snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs13301660
rs13301660
SEC16A
1 1.000 0.040 9 136446350 intron variant C/T snv 0.20 0.700 1.000 1 2019 2019
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: rs17761864
rs17761864
SMG6
2 1.000 0.040 17 2268343 intron variant C/A snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.700 1.000 1 2014 2014
dbSNP: rs1805007
rs1805007
MC1R
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 1.000 1 2019 2019