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: rs200919197
rs200919197
MPG ; NPRL3
1 1.000 0.160 16 85481 missense variant C/G;T snv 1.2E-05; 9.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs2227983
rs2227983
EGFR
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 1995 1995
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.010 1.000 1 2015 2015
dbSNP: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs369012533
rs369012533
ERCC2
2 0.925 0.200 19 45352765 missense variant G/A snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs373917450
rs373917450
XPC
2 0.925 0.160 3 14158365 missense variant G/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs745564626
rs745564626
KLC1 ; XRCC3
14 0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05 0.010 1.000 1 2016 2016
dbSNP: rs746965070
rs746965070
NBN
5 0.827 0.200 8 89955487 missense variant T/C snv 1.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs746983719
rs746983719
EXO1
2 0.925 0.200 1 241860647 missense variant T/C snv 1.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs747908253
rs747908253
ANTXR1
2 0.925 0.200 2 69182599 missense variant G/A snv 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs748625642
rs748625642
MMAB
2 0.925 0.200 12 109568774 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs752510317
rs752510317
ERCC2
1 1.000 0.160 19 45352556 missense variant G/A snv 1.2E-05 0.710 1.000 1 2015 2015
dbSNP: rs755024903
rs755024903
NLRP2
4 0.851 0.200 19 54983029 missense variant G/A;T snv 7.5E-05; 4.2E-06 0.010 1.000 1 2006 2006
dbSNP: rs758439420
rs758439420
ERCC2
1 1.000 0.160 19 45352351 missense variant C/A;T snv 8.0E-06; 1.6E-05 0.700 1.000 1 2012 2012
dbSNP: rs761032372
rs761032372
OGG1 ; CAMK1
2 0.925 0.200 3 9759215 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs764493111
rs764493111
EXO1
2 0.925 0.200 1 241858654 missense variant G/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs767551092
rs767551092
XPC
10 0.790 0.200 3 14164838 missense variant G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs767747355
rs767747355
ERCC2
1 1.000 0.160 19 45364838 frameshift variant GAGT/- delins 1.2E-05 0.010 < 0.001 1 2016 2016
dbSNP: rs771929085
rs771929085
EGFR
1 1.000 0.160 7 55155941 missense variant G/A snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs776223836
rs776223836
ERCC2
11 0.763 0.280 19 45364045 missense variant G/A snv 0.010 1.000 1 2007 2007
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: rs778998026
rs778998026
NBN
2 0.925 0.200 8 89981502 missense variant C/G;T snv 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs77907221
rs77907221
XPC
3 0.882 0.160 3 14154795 intron variant AATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAATTTATAAATATTATAAATTATTATAAAAAATT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs781367751
rs781367751
LIG3
4 0.851 0.200 17 34991822 missense variant A/G snv 1.2E-05 0.010 1.000 1 2006 2006