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: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.720 1.000 3 2013 2019
dbSNP: rs2920283
rs2920283
PSCA ; JRK
2 0.925 0.040 8 142675619 intron variant T/C snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2018 2018
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs7521584
rs7521584
MIR429
3 1.000 0.040 1 1168578 upstream gene variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs873601
rs873601
ERCC5 ; BIVM-ERCC5
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs158572
rs158572
ERCC8 ; NDUFAF2
4 0.851 0.120 5 60943616 intron variant G/A snv 0.63 0.020 1.000 2 2015 2017
dbSNP: rs158916
rs158916
NDUFAF2
3 0.882 0.080 5 60949318 intron variant A/G snv 0.15 0.020 1.000 2 2015 2017
dbSNP: rs1917799
rs1917799 		4 0.851 0.120 10 49542929 upstream gene variant A/C snv 0.25 0.020 1.000 2 2014 2017
dbSNP: rs1886753
rs1886753
TDRG1
1 1.000 0.040 6 40359357 non coding transcript exon variant C/T snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs61516247
rs61516247
LINC00951 ; TDRG1
1 1.000 0.040 6 40344500 non coding transcript exon variant G/A snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs7747696
rs7747696 		1 1.000 0.040 6 42093217 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs7749023
rs7749023 		1 1.000 0.040 6 42093995 non coding transcript exon variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.010 1.000 1 2017 2017
dbSNP: rs6458238
rs6458238
PGC
4 0.882 0.080 6 41749967 intron variant G/A;C snv 0.040 1.000 4 2013 2016
dbSNP: rs9471643
rs9471643
PGC
6 0.882 0.080 6 41751177 intron variant G/C snv 0.19 0.020 1.000 2 2014 2016
dbSNP: rs1002765
rs1002765
CHMP2B ; MIR4795
4 0.851 0.080 3 87227912 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs121224
rs121224
MIR365B ; MIR4725
4 0.851 0.080 17 31574981 intron variant G/C snv 0.66 0.010 < 0.001 1 2016 2016
dbSNP: rs2029298
rs2029298
DDB2
3 0.882 0.080 11 47213167 upstream gene variant C/T snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs2607775
rs2607775
XPC ; LSM3
8 0.807 0.160 3 14178595 5 prime UTR variant C/G snv 0.42 0.43 0.010 1.000 1 2016 2016
dbSNP: rs326222
rs326222
DDB2
3 0.882 0.080 11 47238117 intron variant T/C snv 0.60 0.58 0.010 1.000 1 2016 2016
dbSNP: rs3781619
rs3781619
DDB2
3 0.882 0.080 11 47233766 intron variant G/A snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs6912200
rs6912200
PGC
3 0.925 0.080 6 41750170 intron variant C/T snv 0.54 0.010 < 0.001 1 2016 2016
dbSNP: rs8111742
rs8111742
SPACA6 ; MIRLET7E ; MIR125A ; MIR99B ; SPACA6P-AS
4 0.851 0.120 19 51692221 intron variant G/A;C snv 0.30 0.010 1.000 1 2016 2016