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: rs114216685
rs114216685
RAD54B ; FSBP
1 1.000 0.120 8 94391640 missense variant T/C snv 8.8E-04 3.9E-04 0.700 0
dbSNP: rs121908689
rs121908689
RAD54L ; LRRC41
2 0.925 0.120 1 46272758 missense variant T/A snv 0.700 0
dbSNP: rs606231364
rs606231364
FAS
2 0.925 0.160 10 89003071 missense variant G/A snv 0.700 0
dbSNP: rs758835365
rs758835365
FAS
1 1.000 0.120 10 89010795 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 < 0.001 1 2014 2014
dbSNP: rs147603016
rs147603016
FGFR4
3 0.925 0.160 5 177093286 synonymous variant G/A;C snv 1.5E-04; 8.2E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.020 0.500 2 2009 2016
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.020 0.500 2 2017 2017
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.040 0.750 4 2009 2015
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.040 0.750 4 2009 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.050 0.800 5 2004 2017
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.050 0.800 5 2004 2017
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.050 0.800 5 2004 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.833 12 2003 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 1.000 11 2003 2018
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.060 1.000 6 2007 2015
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.040 1.000 4 2007 2016
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.040 1.000 4 2003 2015
dbSNP: rs1045241
rs1045241
TNFAIP8
6 1.000 0.120 5 119393591 3 prime UTR variant C/T snv 0.30 0.020 1.000 2 2012 2013
dbSNP: rs1053667
rs1053667
TOGARAM1
4 0.925 0.120 14 45073835 3 prime UTR variant T/C snv 0.11 0.020 1.000 2 2014 2014
dbSNP: rs12211228
rs12211228
IRF4
2 1.000 0.120 6 408833 3 prime UTR variant G/C snv 0.11 0.020 1.000 2 2009 2009
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.020 1.000 2 2006 2014
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 1.000 2 2012 2017
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 2009 2013
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 2010 2015