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: rs1635498
rs1635498
EXO1
9 0.807 0.160 1 241881973 missense variant C/A;G;T snv 0.96 0.010 1.000 1 2009 2009
dbSNP: rs1776148
rs1776148
EXO1
9 0.807 0.160 1 241879243 missense variant A/G snv 0.66 0.66 0.010 1.000 1 2009 2009
dbSNP: rs3754093
rs3754093
EXO1
11 0.776 0.240 1 241846814 upstream gene variant A/G snv 0.23 0.010 1.000 1 2009 2009
dbSNP: rs751763046
rs751763046
EXO1
8 0.790 0.200 1 241885375 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs828907
rs828907
XRCC5
6 0.827 0.160 2 216108009 intron variant G/T snv 0.37 0.010 1.000 1 2009 2009
dbSNP: rs851797
rs851797
EXO1
13 0.752 0.240 1 241889740 3 prime UTR variant A/G snv 0.72 0.010 1.000 1 2009 2009
dbSNP: rs9288518
rs9288518
XRCC5
9 0.776 0.240 2 216196997 intron variant A/G snv 0.35 0.010 1.000 1 2009 2009
dbSNP: rs9350
rs9350
EXO1
16 0.742 0.240 1 241885372 missense variant C/T snv 0.21 0.19 0.010 1.000 1 2009 2009
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: rs1271546630
rs1271546630
MPO
2 1.000 0.120 17 58277848 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 < 0.001 1 2010 2010
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2011 2017
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2011 2015
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2011 2013
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: 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: rs1208415127
rs1208415127
RASSF1
6 0.827 0.160 3 50331654 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs14133
rs14133
CRYAB ; HSPB2 ; HSPB2-C11orf52
7 0.807 0.200 11 111911973 5 prime UTR variant G/C snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs16932912
rs16932912
RECK
5 0.882 0.120 9 36087879 missense variant G/A snv 9.2E-02 8.5E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2011 2011
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
dbSNP: rs2031920
rs2031920
CYP2E1 ; LOC107984284
20 0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs2070894
rs2070894
CRYAB
5 0.851 0.160 11 111910113 3 prime UTR variant G/A snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs2228387
rs2228387
CRYAB ; HSPB2 ; HSPB2-C11orf52
5 0.851 0.160 11 111911560 synonymous variant C/G;T snv 1.5E-02 0.010 1.000 1 2011 2011