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: rs8041357
rs8041357
ARID3B
3 0.882 0.120 15 74577097 intron variant T/C snv 6.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs80357138
rs80357138
BRCA1
9 0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs8034191
rs8034191
HYKK
24 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs798766
rs798766
TACC3
6 0.851 0.120 4 1732512 intron variant T/C snv 0.76 0.770 0.889 9 2010 2017
dbSNP: rs7977932
rs7977932
LRRC43 ; IL31
10 0.763 0.320 12 122172836 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs7975
rs7975
GSTZ1
9 0.763 0.320 14 77326864 stop gained G/A;C;T snv 0.31 0.32 0.010 1.000 1 2012 2012
dbSNP: rs786204929
rs786204929
PTEN
12 0.752 0.200 10 87933144 stop gained G/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs786201675
rs786201675
ATM
4 0.925 0.320 11 108282838 frameshift variant TTATT/- delins 0.700 0
dbSNP: rs7832529
rs7832529
SLC20A2
3 0.882 0.120 8 42449295 intron variant T/C snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs78311289
rs78311289
FGFR3
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.800 1.000 2 1999 2001
dbSNP: rs7804372
rs7804372
CAV1
19 0.716 0.320 7 116554174 intron variant T/A snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs779682021
rs779682021
CYP1A1
5 0.882 0.120 15 74721227 missense variant A/C snv 0.010 1.000 1 2013 2013
dbSNP: rs778990691
rs778990691
CCNH
6 0.807 0.240 5 87395069 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs776223836
rs776223836
ERCC2
11 0.763 0.280 19 45364045 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs7747724
rs7747724
CDKAL1
2 0.925 0.120 6 20751084 intron variant T/C snv 0.41 0.700 1.000 1 2014 2014
dbSNP: rs7727691
rs7727691
XRCC4 ; TMEM167A
9 0.763 0.200 5 83075876 intron variant C/T snv 0.32 0.010 1.000 1 2009 2009
dbSNP: rs77191406
rs77191406
TNFAIP3
12 0.790 0.280 6 137881704 3 prime UTR variant C/T snv 7.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs771866347
rs771866347
GPX1
3 0.882 0.120 3 49358109 missense variant G/A snv 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs768623239
rs768623239
GSTM1 ; GSTM2
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.020 1.000 2 2001 2013
dbSNP: rs765502022
rs765502022
UGT2B7
8 0.827 0.240 4 69112695 missense variant T/C snv 1.6E-05 0.020 1.000 2 2005 2008
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.020 1.000 2 2010 2012
dbSNP: rs762551
rs762551
CYP1A2
23 0.701 0.400 15 74749576 intron variant C/A snv 0.67 0.030 1.000 3 2015 2016
dbSNP: rs760805
rs760805
RUNX3 ; LOC107984932
9 0.776 0.240 1 24925432 intron variant A/T snv 0.42 0.010 1.000 1 2008 2008
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018