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: rs12392108
rs12392108 		2 1.000 X 132180234 intergenic variant T/A snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs4360450
rs4360450
SLC7A3
2 1.000 X 70926548 synonymous variant A/G snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.050 0.800 5 2007 2017
dbSNP: rs12484776
rs12484776
TNRC6B
2 1.000 22 40256869 intron variant A/G snv 0.19 0.820 1.000 3 2011 2018
dbSNP: rs12484951
rs12484951
TNRC6B
2 1.000 22 40307071 intron variant T/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs1445081098
rs1445081098
COMT ; MIR4761
17 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs3087869
rs3087869
COMT
1 22 19953984 intron variant A/G snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs3830738
rs3830738
TNRC6B
2 1.000 22 40315223 intron variant -/T delins 0.22 0.700 1.000 1 2019 2019
dbSNP: rs4402860
rs4402860
TNRC6B
2 1.000 22 40158441 intron variant A/G;T snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs4821939
rs4821939
TNRC6B
2 1.000 22 40263247 intron variant T/A snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs528311784
rs528311784
COMT ; MIR4761
1 22 19962807 missense variant A/G snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs729982
rs729982
MRTFA
2 1.000 22 40414942 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs739187
rs739187
LOC105373024
2 1.000 22 37332213 regulatory region variant T/C snv 0.60 0.700 1.000 1 2017 2017
dbSNP: rs749246793
rs749246793
COMT ; MIR4761
1 22 19964189 missense variant T/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs16991615
rs16991615
MCM8
6 0.925 0.080 20 5967581 missense variant G/A snv 4.5E-02 4.2E-02 0.700 1.000 2 2018 2019
dbSNP: rs6058017
rs6058017
AHCY ; ASIP
2 20 34269192 3 prime UTR variant A/G snv 0.15 0.29 0.010 1.000 1 2014 2014
dbSNP: rs6094982
rs6094982 		2 1.000 20 48132514 intron variant T/A snv 1.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2005 2005
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs78378222
rs78378222
TP53
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.700 1.000 3 2018 2019
dbSNP: rs4247357
rs4247357
CCDC57
1 17 82209113 intron variant G/T snv 0.46 0.710 1.000 2 2012 2016
dbSNP: rs605059
rs605059
HSD17B1 ; LOC108783654
15 0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05 0.020 1.000 2 2012 2015
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2019 2019
dbSNP: rs138420351
rs138420351
DNAH2
3 1.000 17 7796745 intron variant C/T snv 9.6E-03 0.700 1.000 1 2018 2018