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: rs613872
rs613872
TCF4
6 0.851 0.120 18 55543071 intron variant G/T snv 0.88 0.800 1.000 15 2010 2019
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
dbSNP: rs1200114
rs1200114 		1 1.000 0.080 1 169091251 intron variant G/A snv 0.75 0.700 1.000 1 2017 2017
dbSNP: rs12223324
rs12223324
GATD1
1 1.000 0.080 11 772701 intron variant A/G snv 0.47 0.700 1.000 1 2017 2017
dbSNP: rs2274700
rs2274700
CFH
11 0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs3768617
rs3768617
LAMC1
1 1.000 0.080 1 183123365 intron variant C/T snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs784257
rs784257
LOC105372130
4 1.000 0.080 18 55729968 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs79742895
rs79742895
KANK4
1 1.000 0.080 1 62317189 intron variant T/C snv 2.9E-02 0.700 1.000 1 2017 2017
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: 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