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: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
21 0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs4072037
rs4072037
MUC1
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.010 1.000 1 2012 2012
dbSNP: rs6573
rs6573
RAP1A ; INKA2
1 1.000 0.080 1 111712767 3 prime UTR variant C/A snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs78378222
rs78378222
TP53
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.010 1.000 1 2012 2012
dbSNP: rs353163
rs353163
TMPRSS11A ; UBA6-AS1
4 0.882 0.080 4 67919056 missense variant T/A;C;G snv 0.67 0.040 1.000 4 2006 2013
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 0.333 3 2007 2013
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2001 2013
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.020 0.500 2 2010 2013
dbSNP: rs17417407
rs17417407
PLCE1
1 1.000 0.080 10 94171330 missense variant G/A;T snv 3.2E-05; 0.17 0.020 1.000 2 2012 2013
dbSNP: rs1170595036
rs1170595036
SDHC
1 1.000 0.080 1 161323623 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs11752942
rs11752942
LINC00951 ; TDRG1
3 0.882 0.080 6 40354019 intron variant A/G snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs121913444
rs121913444
EGFR
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs12263737
rs12263737
PLCE1 ; PLCE1-AS1
2 1.000 0.080 10 94285156 intron variant G/A snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs12602885
rs12602885
RPTOR
1 1.000 0.080 17 80545369 5 prime UTR variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1494961
rs1494961
HELQ
3 0.925 0.160 4 83453327 missense variant C/T snv 0.56 0.60 0.010 1.000 1 2013 2013
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2013 2013
dbSNP: rs174538
rs174538
TMEM258 ; FEN1 ; MIR611
21 0.701 0.440 11 61792609 5 prime UTR variant G/A snv 0.34 0.26 0.010 1.000 1 2013 2013
dbSNP: rs1789924
rs1789924
ADH1C
5 0.925 0.160 4 99353129 upstream gene variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs1883965
rs1883965
MTOR
8 0.807 0.160 1 11262099 intron variant A/G snv 0.63 0.010 1.000 1 2013 2013
dbSNP: rs2073498
rs2073498
RASSF1
12 0.763 0.280 3 50332115 missense variant C/A snv 9.6E-02 8.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs2073506
rs2073506
IL3 ; LOC105379174
3 0.925 0.200 5 132059045 upstream gene variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2274224
rs2274224
PLCE1 ; PLCE1-AS1
6 0.882 0.080 10 94279840 missense variant G/A;C snv 8.8E-05; 0.44 0.010 1.000 1 2013 2013
dbSNP: rs2536
rs2536
MTOR
11 0.776 0.240 1 11106656 3 prime UTR variant T/C snv 5.8E-02 0.010 1.000 1 2013 2013