Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3087386
REV1
0.790 0.160 2 99439044 missense variant A/G snv 0.58 0.61 8
rs3087399
REV1
0.882 0.120 2 99438696 missense variant T/C snv 0.13 0.17 4
rs9557210 1.000 0.040 13 99395250 intergenic variant G/A snv 0.16 1
rs7335046 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 7
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
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
rs10817938
PTCSC2
0.882 0.080 9 97700127 non coding transcript exon variant T/C snv 3.2E-02 5
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
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs7297245
HAL
0.882 0.040 12 95980836 missense variant C/T snv 0.85 0.86 4
rs201125580
LOC100507346 ; PTCH1
1.000 0.040 9 95467191 missense variant C/A;T snv 4.0E-06; 3.8E-04 1
rs779417284
PTCH1
1.000 0.040 9 95449149 missense variant C/T snv 2.4E-05 1
rs4761496 0.851 0.040 12 94733833 regulatory region variant T/A;C snv 0.23 4
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 40
rs1340420
TNKS2
0.925 0.080 10 91857549 intron variant A/G snv 0.71 0.70 3
rs1770474
TNKS2
0.925 0.080 10 91833770 intron variant G/A;T snv 3
rs72928038
BACH2
0.695 0.360 6 90267049 intron variant G/A snv 0.11 19
rs8063761
DEF8
1.000 0.040 16 89961218 intron variant A/T snv 0.33 1
rs4268748
DEF8
0.925 0.080 16 89960104 intron variant T/C snv 0.30 3
rs885479
MC1R
0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 16
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 25
rs35063026
SPATA33
0.925 0.080 16 89669749 3 prime UTR variant C/T snv 4.7E-02 3
rs117984432
ANKRD11
1.000 0.040 16 89388583 intron variant T/C snv 2.0E-02 1
rs1126809
LOC107984363 ; TYR
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 29