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 0.020 1.000 2 2017 2018
dbSNP: rs1063147
rs1063147
BLM
6 0.807 0.120 15 90811275 synonymous variant C/T snv 0.15 0.020 1.000 2 2013 2019
dbSNP: rs11574311
rs11574311
WRN
8 0.776 0.160 8 31119144 intron variant T/C snv 0.16 0.020 1.000 2 2013 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.020 1.000 2 2014 2018
dbSNP: rs4733220
rs4733220
WRN
6 0.807 0.120 8 31043374 intron variant A/G snv 0.50 0.020 1.000 2 2013 2018
dbSNP: rs10981985
rs10981985
LOC105376167
1 1.000 0.080 9 97405289 intron variant G/A snv 0.12 0.010 1.000 1 2014 2014
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2017 2017
dbSNP: rs12432994
rs12432994
KLC1
1 1.000 0.080 14 103672302 intron variant C/T snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs13053109
rs13053109
CRYAA ; LOC107987300
1 1.000 0.080 21 43168609 non coding transcript exon variant G/C snv 4.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 1.000 1 2013 2013
dbSNP: rs144581330
rs144581330
EZR
1 1.000 0.080 6 158789367 missense variant T/C snv 1.7E-03 5.4E-04 0.010 1.000 1 2013 2013
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 < 0.001 1 2018 2018
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 2015 2015
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 2015 2015
dbSNP: rs1801195
rs1801195
WRN
8 0.776 0.240 8 31141764 missense variant G/A;T snv 8.0E-06; 0.45 0.46 0.010 1.000 1 2018 2018
dbSNP: rs199980747
rs199980747
EFNA5
1 1.000 0.080 5 107670512 synonymous variant G/A snv 1.7E-04 7.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs200187971
rs200187971
EFNA5
1 1.000 0.080 5 107670640 5 prime UTR variant G/A;C snv 4.6E-06; 1.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs201008479
rs201008479
EFNA5
1 1.000 0.080 5 107381274 missense variant G/A snv 4.6E-04 1.9E-04 0.010 1.000 1 2014 2014
dbSNP: rs2057768
rs2057768 		4 0.925 0.120 16 27310774 upstream gene variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2072668
rs2072668
OGG1
14 0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24 0.010 1.000 1 2018 2018
dbSNP: rs2107356
rs2107356
IL4R
4 0.851 0.240 16 27312083 upstream gene variant C/T snv 0.35 0.010 1.000 1 2010 2010
dbSNP: rs2132397
rs2132397
GJA8 ; LOC105371229
2 0.925 0.120 1 147909431 downstream gene variant A/G snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs2229090
rs2229090
XPC
6 0.827 0.160 3 14145845 3 prime UTR variant G/C snv 0.25 0.22 0.010 1.000 1 2018 2018
dbSNP: rs2242318
rs2242318
EZR
1 1.000 0.080 6 158767096 intron variant A/G snv 0.62 0.67 0.010 1.000 1 2013 2013
dbSNP: rs2278414
rs2278414
ZNF350 ; ZNF350-AS1
1 1.000 0.080 19 51964569 3 prime UTR variant G/A snv 0.11 0.010 1.000 1 2016 2016