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: rs1015362
rs1015362 		3 0.925 0.080 20 34150806 regulatory region variant C/T snv 0.42 0.010 1.000 1 2013 2013
dbSNP: rs1015363
rs1015363 		1 1.000 0.040 20 34150529 intergenic variant G/A snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs10231520
rs10231520
ABCB5
1 1.000 0.040 7 20742471 intron variant C/T snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs1024708183
rs1024708183
MAP2K7
4 0.925 0.040 19 7909761 missense variant A/G snv 0.020 1.000 2 2005 2015
dbSNP: rs1034265990
rs1034265990
CDKN2A
2 0.925 0.120 9 21971123 missense variant G/A;T snv 4.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs1035142
rs1035142
FLACC1
7 0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54 0.700 1.000 1 2011 2011
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.833 12 2006 2019
dbSNP: rs104894094
rs104894094
CDKN2A
12 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.800 1.000 10 1999 2016
dbSNP: rs104894095
rs104894095
CDKN2A
6 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.060 1.000 6 1997 2007
dbSNP: rs104894097
rs104894097
CDKN2A
8 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.750 1.000 5 1995 2015
dbSNP: rs104894098
rs104894098
CDKN2A
5 0.851 0.200 9 21970982 missense variant A/T snv 0.050 1.000 5 1999 2015
dbSNP: rs104894099
rs104894099
CDKN2A
5 0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06 0.020 1.000 2 2003 2010
dbSNP: rs104894104
rs104894104
CDKN2A
7 0.790 0.160 9 21971019 missense variant G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.710 1.000 2 2014 2016
dbSNP: rs104894340
rs104894340
CDK4
5 0.827 0.200 12 57751647 missense variant C/A;T snv 0.740 0.600 5 2003 2014
dbSNP: rs10492396
rs10492396
BRCA2
2 0.925 0.080 13 32384750 non coding transcript exon variant G/A snv 4.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs10515789
rs10515789
EBF1
1 1.000 0.040 5 159079407 intron variant T/G snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs1051730
rs1051730
CHRNA3
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1051849
rs1051849
DUSP14
1 1.000 0.040 17 37513222 3 prime UTR variant T/C snv 9.9E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2012 2012
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.800 1.000 30 1989 2019
dbSNP: rs1057519702
rs1057519702
KIT
2 1.000 0.040 4 54726020 missense variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519703
rs1057519703
KIT
1 1.000 0.040 4 54727418 missense variant A/C;T snv 0.700 1.000 2 2014 2014
dbSNP: rs1057519704
rs1057519704
KIT
3 0.882 0.080 4 54727425 missense variant T/A snv 0.700 1.000 2 2011 2012