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: rs267598140
rs267598140
DDR2
1 0.925 0.080 1 162778600 missense variant T/A;G snv 0.700 1.000 3 2008 2013
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 		8 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.700 1.000 1 2012 2012
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: rs149906873
rs149906873
OCA2
1 1.000 0.040 15 28088564 intron variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs16891982
rs16891982
SLC45A2
9 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.710 1.000 1 2009 2016
dbSNP: rs17879961
rs17879961
CHEK2
15 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
16 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs35407
rs35407
SLC45A2
6 0.807 0.080 5 33946466 3 prime UTR variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs4299376
rs4299376
ABCG8 ; LOC102725159
10 0.851 0.120 2 43845437 intron variant G/C;T snv 0.700 1.000 1 2012 2012
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: rs6503659
rs6503659 		2 1.000 0.040 17 41741012 intergenic variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs74664507
rs74664507 		3 1.000 0.040 9 16913838 upstream gene variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs121913082
rs121913082
FAS
2 1.000 0.040 10 89014205 missense variant A/G snv 0.700 0
dbSNP: rs121913083
rs121913083
FAS
2 1.000 0.040 10 89008907 missense variant A/G snv 0.700 0
dbSNP: rs121913084
rs121913084
FAS
2 1.000 0.040 10 89010779 missense variant T/C snv 0.700 0
dbSNP: rs201125580
rs201125580
PTCH1 ; LOC100507346
1 1.000 0.040 9 95467191 missense variant C/A;T snv 4.0E-06; 3.8E-04 0.700 0
dbSNP: rs6413464
rs6413464
CDKN2A
1 1.000 0.040 9 21970980 missense variant C/A;G snv 1.3E-03; 4.1E-06 0.700 0
dbSNP: rs779417284
rs779417284
PTCH1
1 1.000 0.040 9 95449149 missense variant C/T snv 2.4E-05 0.700 0
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: rs11571833
rs11571833
BRCA2
21 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.720 1.000 1 2014 2018
dbSNP: rs75790006
rs75790006 		4 0.851 0.040 4 43211547 intron variant T/G snv 1.1E-02 0.700 1.000 1 2017 2017
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: rs10455872
rs10455872
LPA
12 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.700 1.000 1 2012 2012