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: rs4510656
rs4510656
CDKAL1
2 0.925 0.120 6 20766466 intron variant C/A snv 0.39 0.700 1.000 1 2014 2014
dbSNP: rs5003154
rs5003154
PAG1
2 0.925 0.120 8 81074718 intron variant T/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs6104690
rs6104690
LINC02871
2 0.925 0.120 20 11007451 intron variant G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs7238033
rs7238033
SLC14A1 ; LOC105372093
2 0.925 0.120 18 45737001 intron variant T/C snv 0.61 0.700 1.000 1 2011 2011
dbSNP: rs7747724
rs7747724
CDKAL1
2 0.925 0.120 6 20751084 intron variant T/C snv 0.41 0.700 1.000 1 2014 2014
dbSNP: rs78311289
rs78311289
FGFR3
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs907611
rs907611
LSP1
4 0.882 0.160 11 1852842 upstream gene variant G/A snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 0
dbSNP: rs397517792
rs397517792
TTN ; TTN-AS1
1 1.000 0.120 2 178764802 missense variant G/A snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs756952113
rs756952113
EPHA4
1 1.000 0.120 2 221482561 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.615 13 2004 2016
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.100 1.000 11 2005 2016
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.100 1.000 10 2006 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.090 0.889 9 2005 2013
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.080 1.000 8 2010 2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.080 1.000 8 2007 2014
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.080 1.000 8 2001 2019
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.080 0.750 8 2008 2016
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.080 1.000 8 2007 2014
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.080 0.875 8 2007 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 1.000 8 2005 2013
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.080 1.000 8 2009 2014
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.070 0.857 7 2007 2014
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 1.000 7 2010 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.070 1.000 7 2010 2015