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: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2011 2011
dbSNP: rs12360870
rs12360870
MRE11
1 1.000 0.080 11 94440881 intron variant T/C snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs13010627
rs13010627
CASP10
10 0.807 0.280 2 201209375 missense variant G/A snv 4.2E-02 4.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2011 2011
dbSNP: rs2227310
rs2227310
CASP7
9 0.807 0.160 10 113729393 missense variant C/G snv 0.26 0.23 0.010 1.000 1 2015 2015
dbSNP: rs511044
rs511044
CASP5
3 0.925 0.120 11 105024783 upstream gene variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs7003908
rs7003908
PRKDC
16 0.716 0.320 8 47858141 intron variant C/A snv 0.66 0.010 1.000 1 2013 2013
dbSNP: rs751144688
rs751144688
CD44
4 1.000 0.080 11 35206195 missense variant C/T snv 4.0E-06 0.010 1.000 1 2020 2020