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: rs10810657
rs10810657 		7 0.827 0.080 9 16884588 regulatory region variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs192481803
rs192481803 		1 1.000 0.080 2 35111498 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs28535317
rs28535317 		1 1.000 0.080 6 32621288 regulatory region variant A/G snv 7.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs74899442
rs74899442 		1 1.000 0.080 11 116019561 intergenic variant T/C snv 3.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs117132860
rs117132860
AHR
1 1.000 0.080 7 17095084 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913357
rs121913357
BRAF
12 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2016 2016
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs104894104
rs104894104
CDKN2A
7 0.790 0.160 9 21971019 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519881
rs1057519881
CDKN2A
8 0.776 0.240 9 21971111 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519882
rs1057519882
CDKN2A
7 0.807 0.200 9 21974678 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs121913385
rs121913385
CDKN2A
9 0.763 0.240 9 21971112 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs121913386
rs121913386
CDKN2A
7 0.807 0.120 9 21971018 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs34968276
rs34968276
CDKN2A
9 0.776 0.240 9 21971110 stop gained G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519885
rs1057519885
CFAP61 ; CRNKL1
2 0.925 0.080 20 20052443 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs267600971
rs267600971
CYP21A2 ; DXO ; STK19
3 0.882 0.080 6 31972346 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519816
rs1057519816
ERBB2
14 0.763 0.200 17 39711955 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs17247181
rs17247181
ERBIN
1 1.000 0.080 5 65959844 intron variant C/T snv 6.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs12913832
rs12913832
HERC2
15 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs916977
rs916977
HERC2
5 1.000 0.080 15 28268218 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1059572
rs1059572
HLA-DRB1
1 1.000 0.080 6 32584314 missense variant G/A;C;T snv 1.1E-02; 1.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
37 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.700 1.000 4 2012 2016
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016