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: rs1057520003
rs1057520003
TP53
20 0.695 0.320 17 7675996 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520004
rs1057520004
TP53
12 0.752 0.240 17 7674884 missense variant A/C;T snv 0.700 1.000 1 2016 2016
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: rs1126809
rs1126809
TYR ; LOC107984363
29 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 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: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 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: rs11715549
rs11715549
LPP
1 1.000 0.080 3 188370330 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121912657
rs121912657
TP53
24 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121912660
rs121912660
TP53
26 0.683 0.240 17 7673781 missense variant C/A;G;T snv 0.700 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: 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: rs121913496
rs121913496
HRAS ; LRRC56
16 0.724 0.440 11 533873 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 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: rs17849781
rs17849781
TP53
22 0.701 0.480 17 7673788 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1800407
rs1800407
OCA2
10 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.700 1.000 1 2016 2016
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 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