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: rs60369023
rs60369023
CDA
4 0.851 0.240 1 20604981 missense variant G/A snv 2.6E-04 1.5E-04 0.010 1.000 1 2014 2014
dbSNP: rs770085172
rs770085172
AGT
1 1.000 0.160 1 230710315 missense variant T/C snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1225118391
rs1225118391
AGT
2 0.925 0.200 1 230710637 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs560299246
rs560299246
EXO1
2 0.925 0.200 1 241858594 missense variant C/T snv 8.0E-05 7.0E-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: 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: 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
dbSNP: rs2237857
rs2237857
FANCG
2 0.925 0.200 9 35076758 missense variant G/A snv 1.5E-02 3.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs1799966
rs1799966
BRCA1
8 0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35 0.010 1.000 1 2014 2014
dbSNP: rs80357610
rs80357610
BRCA1
7 0.851 0.160 17 43094550 frameshift variant GT/- delins 0.010 1.000 1 2013 2013
dbSNP: rs80357091
rs80357091
BRCA1
2 1.000 0.160 17 43104910 missense variant A/C;G snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.960 25 2004 2016
dbSNP: rs1436873982
rs1436873982
XRCC1
2 0.925 0.200 19 43552212 missense variant G/A snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.030 1.000 3 2007 2016
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.060 1.000 6 2006 2011
dbSNP: rs1402607735
rs1402607735
XRCC1 ; PINLYP
2 0.925 0.160 19 43575436 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.100 0.938 32 2001 2019
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.100 0.917 12 2004 2015
dbSNP: rs121913026
rs121913026
ERCC2
4 0.851 0.400 19 45352235 missense variant G/A snv 2.4E-05 9.1E-05 0.710 1.000 1 1996 1996
dbSNP: rs144564120
rs144564120
ERCC2
2 0.925 0.160 19 45352249 missense variant G/C snv 3.1E-04 2.9E-04 0.700 0
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: rs41556519
rs41556519
ERCC2
6 0.807 0.400 19 45352352 missense variant G/A snv 6.0E-05 2.8E-05 0.810 1.000 2 1996 2012
dbSNP: rs121913023
rs121913023
ERCC2
4 0.851 0.400 19 45352511 missense variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 7 1994 2004
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: rs762141272
rs762141272
ERCC2
3 0.882 0.160 19 45352579 missense variant C/T snv 1.6E-05 7.0E-06 0.010 1.000 1 1996 1996