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: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs10484761
rs10484761 		7 0.807 0.080 6 40834522 intergenic variant T/C snv 0.31 0.010 < 0.001 1 2013 2013
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.020 < 0.001 2 2008 2013
dbSNP: rs1049253
rs1049253
CASP3
4 0.851 0.160 4 184627797 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2013 2013
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.030 1.000 3 2003 2015
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 2011 2011
dbSNP: rs1057519991
rs1057519991
TP53
26 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1058172
rs1058172
CYP2D6 ; NDUFA6-DT
4 0.882 0.080 22 42127526 missense variant C/G;T snv 4.4E-06; 9.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs10877887
rs10877887
LINC01465 ; MIRLET7I
18 0.701 0.440 12 62603400 non coding transcript exon variant T/C snv 0.42 0.020 1.000 2 2017 2018
dbSNP: rs10882272
rs10882272
FFAR4
3 0.925 0.040 10 93588425 3 prime UTR variant T/C snv 0.44 0.010 1.000 1 2015 2015
dbSNP: rs10950641
rs10950641
SNX8
4 0.925 0.040 7 2294751 intron variant G/A snv 2.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs11016879
rs11016879
MGMT
4 0.882 0.040 10 129691518 intron variant A/C;G snv 0.66 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 0.010 1.000 1 2015 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 2019 2019
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs11515
rs11515
CDKN2A ; CDKN2A-DT
6 0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88 0.010 < 0.001 1 2014 2014
dbSNP: rs11540483
rs11540483
TAX1BP1
2 0.925 0.040 7 27787484 missense variant T/A snv 8.2E-02 7.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.020 1.000 2 2017 2018
dbSNP: rs11752942
rs11752942
LINC00951 ; TDRG1
3 0.882 0.080 6 40354019 intron variant A/G snv 0.46 0.010 1.000 1 2017 2017
dbSNP: rs1183646267
rs1183646267
ATM
2 0.925 0.040 11 108281026 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1208
rs1208
NAT2
8 0.807 0.080 8 18400806 missense variant G/A;T snv 0.62; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 0.400 5 2007 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs12212067
rs12212067
FOXO3
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2010 2010