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: rs139834892
rs139834892
XRCC1
3 0.882 0.040 19 43553481 missense variant C/T snv 6.4E-05 1.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs1408538785
rs1408538785
DNAH8
6 0.827 0.080 6 38761760 missense variant A/G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1470755915
rs1470755915
RUNX1T1
10 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs1482518887
rs1482518887
RUNX1
8 0.790 0.040 21 34887018 missense variant C/T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2003 2003
dbSNP: rs17433222
rs17433222
C1QB
1 1.000 0.040 1 22652153 upstream gene variant G/A snv 0.23 0.010 1.000 1 2010 2010
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 < 0.001 1 2016 2016
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2015 2015
dbSNP: rs17886724
rs17886724
STAT3
2 0.925 0.040 17 42344145 intron variant A/G snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2006 2006
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.010 1.000 1 2012 2012
dbSNP: rs1801132
rs1801132
ESR1
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.010 1.000 1 2010 2010
dbSNP: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs1801280
rs1801280
NAT2
14 0.716 0.440 8 18400344 missense variant T/C snv 0.38 0.39 0.010 1.000 1 2012 2012
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2014 2014
dbSNP: rs1979277
rs1979277
SHMT1
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.010 < 0.001 1 2014 2014
dbSNP: rs1997623
rs1997623
CAV1
9 0.807 0.160 7 116525306 missense variant A/C;G snv 0.86 0.010 1.000 1 2013 2013
dbSNP: rs201045130
rs201045130
NT5C1A
2 0.925 0.040 1 39659467 missense variant A/G snv 9.9E-05 1.0E-04 0.010 1.000 1 2016 2016
dbSNP: rs201820837
rs201820837
ETV6
2 0.925 0.040 12 11869532 missense variant G/A;T snv 2.4E-05; 6.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs2070874
rs2070874
IL4
27 0.672 0.560 5 132674018 5 prime UTR variant C/T snv 0.28 0.28 0.010 1.000 1 2017 2017
dbSNP: rs2075685
rs2075685
XRCC4 ; TMEM167A
14 0.724 0.320 5 83076846 intron variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2075686
rs2075686
XRCC4 ; TMEM167A
13 0.742 0.240 5 83076927 intron variant C/T snv 1.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs2077647
rs2077647
ESR1
16 0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46 0.010 1.000 1 2010 2010
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2015 2015