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: 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: 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: 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: rs1057519855
rs1057519855
HRAS ; LRRC56
11 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 0.010 1.000 1 2018 2018
dbSNP: rs1057519860
rs1057519860
EGFR
5 0.851 0.080 7 55160316 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1057520031
rs1057520031
KIT
2 1.000 0.040 4 54727440 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1060502550
rs1060502550
KIT
1 1.000 0.040 4 54727488 missense variant A/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1063045
rs1063045
NBN
1 1.000 0.040 8 89982791 synonymous variant C/T snv 0.35 0.33 0.010 1.000 1 2007 2007
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs10754833
rs10754833
NID1
4 0.851 0.040 1 236021631 intron variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs10816595
rs10816595 		4 0.851 0.080 9 107947454 regulatory region variant A/G snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs10830253
rs10830253
TYR
4 0.851 0.080 11 89294875 intron variant T/G snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs10951982
rs10951982
RAC1
5 0.851 0.160 7 6382925 intron variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1110400
rs1110400
MC1R
3 1.000 0.040 16 89919722 missense variant T/C snv 5.6E-03 6.6E-03 0.010 1.000 1 2008 2008
dbSNP: rs11225395
rs11225395
MMP8
11 0.776 0.360 11 102725749 intron variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1131691186
rs1131691186
CDKN2A
3 0.925 0.120 9 21974761 missense variant C/A;T snv 0.010 1.000 1 2007 2007