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: rs2227945
rs2227945
BRCA1
2 1.000 0.080 17 43092113 missense variant T/C;G snv 2.5E-03 1.0E-02 0.010 1.000 1 2000 2000
dbSNP: rs2230926
rs2230926
TNFAIP3
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 < 0.001 1 2009 2009
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2006 2006
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2013 2013
dbSNP: rs764643047
rs764643047
OGG1
5 0.851 0.120 3 9750336 missense variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs773862672
rs773862672
MTOR
6 0.882 0.280 1 11247922 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs78768932
rs78768932
PXN
6 0.882 0.080 12 120222977 missense variant C/G;T snv 5.4E-03 5.4E-03 0.010 1.000 1 2013 2013
dbSNP: rs9808753
rs9808753
IFNGR2
17 0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18 0.010 1.000 1 2011 2011
dbSNP: rs3218674
rs3218674
ATM
2 1.000 0.120 11 108244860 synonymous variant C/G;T snv 1.1E-02 1.1E-02 0.010 1.000 1 2002 2002
dbSNP: rs1053023
rs1053023
STAT3
4 0.882 0.120 17 42313598 3 prime UTR variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs12566340
rs12566340
BCL2L15 ; AP4B1-AS1
3 0.925 0.200 1 113877706 3 prime UTR variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs3811021
rs3811021
PTPN22 ; RSBN1 ; AP4B1-AS1
2 1.000 0.080 1 113814041 3 prime UTR variant A/G snv 0.15 0.010 1.000 1 2010 2010
dbSNP: rs9610
rs9610
IL10RA ; SMIM35
4 0.882 0.240 11 118001371 3 prime UTR variant G/A;T snv 0.51 0.010 1.000 1 2012 2012
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.070 1.000 7 2013 2018
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 1.000 2 2012 2013
dbSNP: rs2509049
rs2509049
H2AX
6 0.827 0.160 11 119095811 upstream gene variant C/A;T snv 0.010 1.000 1 2013 2013