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: rs7042889
rs7042889 		2 0.925 0.080 9 129033082 upstream gene variant A/C snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs7109645
rs7109645
PAK1
3 0.882 0.080 11 77475278 non coding transcript exon variant A/C snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs712
rs712
KRAS
24 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs7248167
rs7248167 		3 0.882 0.080 19 43455962 downstream gene variant A/C snv 0.22 0.010 < 0.001 1 2015 2015
dbSNP: rs77045810
rs77045810 		1 1.000 0.080 1 168535779 downstream gene variant A/C snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs9554314
rs9554314
FLT1
4 0.851 0.080 13 28301652 3 prime UTR variant A/C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.730 1.000 4 2008 2016
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs118137916
rs118137916
IL7R
3 0.882 0.080 5 35863436 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1410508127
rs1410508127
CASP7
3 0.882 0.080 10 113679831 missense variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs1800264
rs1800264
DMD
5 0.827 0.120 X 32699141 missense variant A/C;G snv 5.5E-06; 8.3E-03 0.010 1.000 1 2015 2015
dbSNP: rs213210
rs213210
RING1 ; MIR219A1
11 0.742 0.240 6 33208047 upstream gene variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs2596500
rs2596500
HLA-B
2 0.925 0.120 6 31353490 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs35755165
rs35755165 		5 0.882 0.080 19 40840084 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs6985140
rs6985140
TNKS
3 0.882 0.080 8 9679917 non coding transcript exon variant A/C;G snv 8.0E-06; 1.0E-01 0.010 1.000 1 2009 2009
dbSNP: rs74790047
rs74790047
CHD4
7 0.851 0.120 12 6601978 missense variant A/C;G snv 2.0E-05; 1.2E-04; 5.2E-03 1.7E-03 0.010 1.000 1 2015 2015
dbSNP: rs759156239
rs759156239
NTHL1
3 0.882 0.080 16 2044727 missense variant A/C;G snv 4.1E-06; 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.750 1.000 16 2002 2018
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 1.000 2 2017 2017
dbSNP: rs722864
rs722864
MAP3K20
3 0.882 0.080 2 173118476 intron variant A/C;G;T snv 0.710 1.000 2 2017 2018
dbSNP: rs760043106
rs760043106
TP53
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.020 1.000 2 2008 2009
dbSNP: rs1057519975
rs1057519975
TP53
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1799977
rs1799977
MLH1
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2008 2008
dbSNP: rs1859168
rs1859168
HOTTIP
13 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs28399433
rs28399433
CYP2A6
7 0.827 0.200 19 40850474 intron variant A/C;G;T snv 0.10; 4.4E-06 0.010 1.000 1 2018 2018