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: rs2077197
rs2077197
PARP1
2 0.925 0.080 1 226408338 upstream gene variant C/G;T snv 0.010 1.000 1 2015 2015
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 2015 2015
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 1 2014 2014
dbSNP: rs10274701
rs10274701
EZH2
2 0.925 0.080 7 148855364 intron variant C/T snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs1054135
rs1054135
FABP4 ; LOC101927118
5 0.851 0.240 8 81478525 3 prime UTR variant C/T snv 0.17 0.010 1.000 1 2016 2016
dbSNP: rs1064793309
rs1064793309
BRCA1
2 0.925 0.080 17 43063889 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1114167795
rs1114167795
MSH6 ; FBXO11
4 0.851 0.080 2 47799482 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1235679626
rs1235679626
MORC2
3 0.925 0.080 22 30940834 missense variant C/T snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs1360485
rs1360485
HMGB1
16 0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58 0.010 1.000 1 2018 2018
dbSNP: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs397507758
rs397507758
BRCA2
6 0.807 0.200 13 32339456 stop gained C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs4415084
rs4415084 		6 0.827 0.080 5 44662413 upstream gene variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs4784227
rs4784227
CASC16
8 0.807 0.160 16 52565276 intron variant C/T snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs527779103
rs527779103
ERBB2
2 0.925 0.080 17 39708528 missense variant C/T snv 5.4E-04 1.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs56391007
rs56391007
MET
16 0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs72631823
rs72631823
MIR34A ; MIR34AHG
2 0.925 0.080 1 9151723 non coding transcript exon variant C/T snv 1.2E-04 4.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs746702110
rs746702110
OGG1
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs750040814
rs750040814
XPC
5 0.827 0.160 3 14158639 missense variant C/T snv 1.6E-05 5.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs7527192
rs7527192
PARP1
2 0.925 0.080 1 226408378 upstream gene variant C/T snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs999737
rs999737
RAD51B
8 0.776 0.200 14 68567965 intron variant C/T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2015 2015
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.020 1.000 2 2011 2012
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 1.000 2 2015 2016
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 1.000 1 2018 2018
dbSNP: rs148047459
rs148047459
MUL1
2 0.925 0.080 1 20501166 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2019 2019