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: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs10743980
rs10743980
LRP6
4 0.882 0.120 12 12259861 intron variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs10748835
rs10748835
AS3MT ; BORCS7-ASMT ; LOC107984265
5 0.827 0.160 10 102900499 non coding transcript exon variant G/A snv 0.41 0.020 1.000 2 2018 2018
dbSNP: rs10759
rs10759
RGS4
4 0.851 0.160 1 163076561 3 prime UTR variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10775480
rs10775480
SLC14A1 ; LOC105372093
3 0.882 0.120 18 45737317 intron variant T/C snv 0.61 0.710 1.000 3 2011 2014
dbSNP: rs10811474
rs10811474 		11 0.742 0.240 9 21114238 intergenic variant A/G snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs10936599
rs10936599
MYNN
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.720 1.000 3 2014 2019
dbSNP: rs11077654
rs11077654
SLC39A11
3 0.882 0.120 17 73010373 intron variant A/C snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1109324
rs1109324 		5 0.827 0.160 6 43762018 intergenic variant G/T snv 0.15 0.010 1.000 1 2007 2007
dbSNP: rs11191438
rs11191438
AS3MT ; BORCS7-ASMT
3 0.882 0.120 10 102878107 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs11191439
rs11191439
AS3MT ; BORCS7-ASMT
6 0.851 0.120 10 102878966 missense variant T/A;C snv 9.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs11191454
rs11191454
AS3MT ; BORCS7-ASMT ; LOC107984265
9 0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs11249206
rs11249206
RUNX3 ; LOC105376878
4 0.851 0.160 1 24951491 intron variant C/T snv 0.48 0.010 1.000 1 2008 2008
dbSNP: rs1130214
rs1130214
AKT1
12 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs1130233
rs1130233
AKT1
13 0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23 0.010 1.000 1 2018 2018
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.030 0.667 3 2007 2013
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 1.000 7 2010 2015
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 2015 2015
dbSNP: rs1135612
rs1135612
POR
3 0.882 0.120 7 75980359 synonymous variant A/G;T snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2007 2007
dbSNP: rs1141718
rs1141718
SOD2
15 0.724 0.280 6 159688224 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs11466445
rs11466445
TGFBR1
5 0.851 0.160 9 99105256 inframe insertion GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG delins 0.010 < 0.001 1 2009 2009
dbSNP: rs11543198
rs11543198
CLK3
3 0.882 0.120 15 74619987 missense variant G/A;T snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.040 0.750 4 2011 2017