Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs45446698
CYP3A7-CYP3A51P ; CYP3A7 ; ZSCAN25
0.807 0.120 7 99735325 upstream gene variant T/G snv 2.7E-02 9
rs3792136
REV1
0.882 0.080 2 99445311 intron variant G/A snv 0.14 3
rs3087386
REV1
0.790 0.160 2 99439044 missense variant A/G snv 0.58 0.61 8
rs2233679
PIN1 ; LOC100996288
0.763 0.360 19 9834678 splice region variant C/T snv 0.59 11
rs2233678
PIN1 ; LOC100996288
0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv 14
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 19
rs376040996
XPA
0.790 0.120 9 97687210 missense variant T/C;G snv 1.2E-05; 2.0E-05 7
rs1408543226
XPA
0.807 0.240 9 97675558 missense variant A/G snv 7.0E-06 6
rs775439790
CAMK1 ; OGG1
0.851 0.080 3 9765858 missense variant T/C snv 8.0E-06 1.4E-05 4
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs746702110
OGG1
0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 38
rs764643047
OGG1
0.851 0.120 3 9750336 missense variant C/T snv 4.0E-06 5
rs6985140
TNKS
0.882 0.080 8 9679917 non coding transcript exon variant A/C;G snv 8.0E-06; 1.0E-01 3
rs10849605
RAD52
0.882 0.080 12 955272 intron variant T/C snv 0.49 4
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs1329032366
PDLIM5
0.882 0.080 4 94654530 missense variant A/G snv 4.0E-06 5
rs17021918
PDLIM5
0.776 0.240 4 94641726 intron variant C/T snv 0.30 8
rs11020802
ANKRD49 ; MRE11
0.882 0.080 11 94493959 upstream gene variant C/A;G;T snv 3
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 40
rs2282987
CDK6
0.882 0.080 7 92683489 intron variant G/C snv 3.7E-02 3
rs2352028
GPC5
0.851 0.080 13 91792975 intron variant C/G;T snv 6
rs118101777
IDH2
0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 42
rs11540478
IDH2
0.851 0.080 15 90085305 synonymous variant G/A;C snv 3.5E-02; 6.4E-06 4
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs709816
NBN
0.752 0.320 8 89955483 synonymous variant A/G snv 0.47 0.51 10