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: rs3024994
rs3024994
VEGFA
8 0.776 0.120 6 43775770 non coding transcript exon variant C/T snv 3.8E-02 0.010 1.000 1 2007 2007
dbSNP: rs3136820
rs3136820
APEX1
8 0.776 0.200 14 20456995 missense variant T/A;C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs3218373
rs3218373
XRCC2
5 0.827 0.120 7 152677078 upstream gene variant C/A snv 0.15 0.010 1.000 1 2007 2007
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 2007 2007
dbSNP: rs6464268
rs6464268 		3 0.882 0.120 7 152684065 intergenic variant A/G snv 0.23 0.010 1.000 1 2007 2007
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: rs80357138
rs80357138
BRCA1
9 0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs386675647
rs386675647
UGT2B7
10 0.790 0.240 4 69098619 missense variant AT/TC mnv 0.020 1.000 2 2005 2008
dbSNP: rs7439366
rs7439366
UGT2B7
16 0.752 0.320 4 69098620 missense variant T/C snv 0.56 0.57 0.020 1.000 2 2005 2008
dbSNP: rs765502022
rs765502022
UGT2B7
8 0.827 0.240 4 69112695 missense variant T/C snv 1.6E-05 0.020 1.000 2 2005 2008
dbSNP: rs11249206
rs11249206
RUNX3 ; LOC105376878
4 0.851 0.160 1 24951491 intron variant C/T snv 0.48 0.010 1.000 1 2008 2008
dbSNP: rs197414
rs197414
DDX20
3 0.882 0.120 1 111766501 missense variant C/A;T snv 0.12; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2107425
rs2107425
MRPL23 ; H19
16 0.732 0.280 11 1999845 intron variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs2155209
rs2155209
MRE11
10 0.776 0.240 11 94417624 3 prime UTR variant T/C snv 0.27 0.010 1.000 1 2008 2008
dbSNP: rs2839698
rs2839698
MRPL23 ; H19 ; MIR675
25 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 0.010 1.000 1 2008 2008
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.010 1.000 1 2008 2008
dbSNP: rs760805
rs760805
RUNX3 ; LOC107984932
9 0.776 0.240 1 24925432 intron variant A/T snv 0.42 0.010 1.000 1 2008 2008
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2004 2009
dbSNP: rs11466445
rs11466445
TGFBR1
5 0.851 0.160 9 99105256 inframe insertion GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG delins 0.010 < 0.001 1 2009 2009
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: rs2075685
rs2075685
XRCC4 ; TMEM167A
14 0.724 0.320 5 83076846 intron variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2075686
rs2075686
XRCC4 ; TMEM167A
13 0.742 0.240 5 83076927 intron variant C/T snv 1.7E-02 0.010 1.000 1 2009 2009
dbSNP: rs28360317
rs28360317
XRCC4
15 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 0.010 1.000 1 2009 2009
dbSNP: rs3734091
rs3734091
XRCC4
19 0.689 0.280 5 83204915 missense variant G/T snv 2.3E-02 1.4E-02 0.010 1.000 1 2009 2009