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: rs2720460
rs2720460
CENPE
2 1.000 0.120 4 103133529 intron variant A/G snv 0.35 0.800 1.000 4 2013 2017
dbSNP: rs4699052
rs4699052 		3 0.925 0.200 4 103216633 intergenic variant C/T snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs17153755
rs17153755
GATA4
1 1.000 0.120 8 11753991 intron variant C/G snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs4561483
rs4561483
BCAR4
1 1.000 0.120 16 11826180 intron variant A/G;T snv 0.710 1.000 3 2015 2017
dbSNP: rs11205
rs11205
HSD17B4
1 1.000 0.120 5 119526018 missense variant A/G snv 0.42 0.41 0.010 1.000 1 2010 2010
dbSNP: rs2713206
rs2713206
TFCP2L1
1 1.000 0.120 2 121250365 intron variant C/T snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs137853078
rs137853078
STK11
3 0.925 0.120 19 1220396 missense variant G/A snv 0.700 1.000 3 1998 2008
dbSNP: rs61408740
rs61408740
LHPP
1 1.000 0.120 10 124586043 intron variant C/G snv 8.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs648090
rs648090
PKNOX2
1 1.000 0.120 11 125201267 intron variant A/G snv 0.71 0.700 1.000 1 2017 2017
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.800 1.000 3 2013 2017
dbSNP: rs4635969
rs4635969 		7 0.827 0.160 5 1308437 downstream gene variant G/A;T snv 0.800 1.000 2 2013 2017
dbSNP: rs3805663
rs3805663
PITX1
2 1.000 0.120 5 135030510 intron variant A/G snv 0.49 0.700 1.000 1 2013 2013
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2020 2020
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 2020 2020
dbSNP: rs11705932
rs11705932
TFDP2
1 1.000 0.120 3 142100008 intron variant C/T snv 0.20 0.710 1.000 2 2015 2017
dbSNP: rs4324715
rs4324715 		2 0.925 0.160 5 142289942 regulatory region variant C/T snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs4624820
rs4624820 		5 0.851 0.240 5 142302223 regulatory region variant G/A snv 0.55 0.810 1.000 6 2009 2017
dbSNP: rs12228415
rs12228415
ATF7IP
1 1.000 0.120 12 14367767 intron variant A/G snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs2900333
rs2900333
ATF7IP
6 0.882 0.200 12 14500933 3 prime UTR variant C/A;G;T snv 0.800 1.000 3 2013 2017
dbSNP: rs11155671
rs11155671
KATNA1
1 1.000 0.120 6 149650996 upstream gene variant G/A snv 0.46 0.700 1.000 1 2017 2017
dbSNP: rs17336718
rs17336718
TKTL1
1 1.000 0.120 X 154307767 intron variant C/T snv 4.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs7404843
rs7404843
BMERB1
1 1.000 0.120 16 15436851 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs2072499
rs2072499
SLC25A44
3 1.000 0.120 1 156199819 non coding transcript exon variant A/G snv 0.34 0.43 0.800 1.000 4 2013 2017
dbSNP: rs1510272
rs1510272 		1 1.000 0.120 3 156582935 regulatory region variant C/T snv 0.25 0.700 1.000 2 2017 2017
dbSNP: rs11769858
rs11769858 		1 1.000 0.120 7 158708801 upstream gene variant T/C snv 0.60 0.700 1.000 1 2017 2017