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: rs1003918
rs1003918
LIG3
2 0.925 0.080 17 35005158 3 prime UTR variant G/A snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs1052536
rs1052536
LIG3
10 0.776 0.200 17 35004556 3 prime UTR variant C/T snv 0.42 0.36 0.010 1.000 1 2015 2015
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: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2015 2015
dbSNP: rs117860804
rs117860804
COL8A2
1 1.000 0.080 1 36098176 missense variant G/A;C snv 3.0E-02; 1.6E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs1452787
rs1452787
TCF4
5 0.827 0.160 18 55539976 intron variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs17089887
rs17089887
TCF4
1 1.000 0.080 18 55541025 intron variant T/C snv 6.9E-02 0.010 1.000 1 2014 2014
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 2018 2018
dbSNP: rs1760944
rs1760944
APEX1 ; OSGEP
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs185919705
rs185919705
AGBL1
2 0.925 0.080 15 86674435 stop gained C/T snv 1.8E-03; 4.1E-06 2.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs201235688
rs201235688
COL8A2
2 0.925 0.080 1 36098380 missense variant C/A;T snv 1.2E-03 0.010 < 0.001 1 2006 2006
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2015 2015
dbSNP: rs3135967
rs3135967
LIG3
4 0.851 0.160 17 34986710 intron variant A/G snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs373356672
rs373356672
NEIL1 ; MIR631
2 0.925 0.080 15 75354442 missense variant C/T snv 2.0E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs4246215
rs4246215
FEN1 ; FADS2
29 0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs727504229
rs727504229
COL8A2
2 0.925 0.080 1 36098317 missense variant TG/AC mnv 0.010 1.000 1 2009 2009
dbSNP: rs779148597
rs779148597
ZEB1
3 0.882 0.080 10 31521255 missense variant G/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs80358192
rs80358192
COL8A2
6 0.807 0.080 1 36098332 missense variant A/C;G snv 4.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs8177178
rs8177178
TF ; INHCAP
3 0.925 0.080 3 133744428 intron variant G/A snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs8177179
rs8177179
TF ; INHCAP
4 0.925 0.080 3 133744613 intron variant G/A snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs1348047
rs1348047
TCF4
1 1.000 0.080 18 55382827 intron variant G/T snv 0.26 0.020 1.000 2 2019 2019
dbSNP: rs75864656
rs75864656
COL8A2
2 0.925 0.080 1 36099217 missense variant C/G;T snv 7.4E-06; 2.6E-02 0.020 1.000 2 2004 2006
dbSNP: rs80358191
rs80358191
COL8A2
3 0.882 0.080 1 36098318 missense variant G/T snv 0.020 1.000 2 2009 2012
dbSNP: rs10490775
rs10490775
PTPRG
1 1.000 0.080 3 62051050 intron variant C/T snv 0.13 0.700 1.000 1 2010 2010