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: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2008 2016
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2014 2016
dbSNP: rs1805377
rs1805377
XRCC4
19 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 0.020 1.000 2 2008 2008
dbSNP: rs189037
rs189037
ATM ; NPAT
22 0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 0.020 1.000 2 2010 2019
dbSNP: rs2040639
rs2040639
XRCC2
2 1.000 0.080 7 152678103 upstream gene variant T/C;G snv 0.020 1.000 2 2008 2015
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.020 1.000 2 2015 2019
dbSNP: rs28360317
rs28360317
XRCC4
15 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 0.020 1.000 2 2008 2008
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2018 2019
dbSNP: rs6869366
rs6869366
XRCC4 ; TMEM167A
18 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 0.020 1.000 2 2008 2008
dbSNP: rs10399805
rs10399805
CHI3L1
7 0.851 0.240 1 203186870 upstream gene variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1045487
rs1045487
CASP8
2 1.000 0.080 2 201284973 synonymous variant G/A snv 9.5E-02 0.10 0.010 1.000 1 2017 2017
dbSNP: rs1047781
rs1047781
FUT2 ; LOC105447645
11 0.790 0.200 19 48703374 missense variant A/T snv 3.6E-02 1.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs1047840
rs1047840
EXO1
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.010 1.000 1 2009 2009
dbSNP: rs1047972
rs1047972
AURKA
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.010 1.000 1 2019 2019
dbSNP: rs1048638
rs1048638
CA9
10 0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs1057035
rs1057035
DICER1
12 0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs10900598
rs10900598
MDM4
4 0.882 0.120 1 204556440 3 prime UTR variant G/C;T snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs10972727
rs10972727
RECK
4 0.882 0.200 9 36110066 synonymous variant T/A snv 0.32 0.28 0.010 < 0.001 1 2011 2011
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 2019 2019
dbSNP: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 < 0.001 1 2019 2019
dbSNP: rs11545028
rs11545028
WWOX
3 1.000 0.080 16 78099774 5 prime UTR variant C/T snv 0.30 0.28 0.010 1.000 1 2016 2016
dbSNP: rs11685387
rs11685387
XRCC5
9 0.776 0.240 2 216109091 splice region variant C/T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs11788747
rs11788747
RECK
6 0.851 0.240 9 36105267 synonymous variant A/C;G snv 4.0E-06; 0.34 0.010 < 0.001 1 2011 2011
dbSNP: rs11801299
rs11801299
LOC105371692
9 0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 0.010 1.000 1 2012 2012