Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3817444
CLOCK
4 55509814 intron variant A/C snv 0.69 1
rs1801260
CLOCK ; TMEM165
0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 28
rs2303846
CPEB1
15 82544529 3 prime UTR variant G/A snv 0.14 1
rs36069724
CRISP2
6 49695854 missense variant A/G snv 1.7E-02 1.3E-02 2
rs28939068
CST3
0.790 0.200 20 23635330 missense variant A/T snv 9
rs17115149
CYP17A1
0.882 0.160 10 102837961 upstream gene variant G/A;T snv 4
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs4646903
CYP1A1
0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 36
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs1042389
CYP2B6
19 41018248 3 prime UTR variant T/C snv 0.21 1
rs121918346
DAZL
0.882 0.040 3 16598169 missense variant T/C;G snv 8.0E-06 5
rs11710967
DAZL
3 16598568 missense variant T/A;C snv 0.11 1
rs140685149
DEFB126
1.000 0.080 20 145670 frameshift variant CC/-;C;CCC delins 2
rs11467497
DEFB126
20 145515 frameshift variant CAAA/- delins 0.15 0.18 1
rs4804490
DNMT1
19 10156335 intron variant C/A snv 0.11 1
rs1550117
DNMT3A
0.790 0.320 2 25343038 upstream gene variant A/G;T snv 11
rs1391383394
DNMT3B
20 32791692 missense variant T/C snv 7.0E-06 1
rs2424909
DNMT3B
20 32774055 intron variant T/C snv 0.57 1
rs2070565
DNMT3L
0.925 0.080 21 44261270 splice region variant T/C snv 0.70 0.75 3
rs2276248
DNMT3L
1.000 0.040 21 44259375 intron variant T/C snv 6.1E-02 2
rs7354779
DNMT3L ; DNMT3L-AS1
0.827 0.200 21 44250887 missense variant T/C snv 0.21 6
rs10129954
DPF3
1.000 0.040 14 72683993 intron variant C/T snv 0.49 2
rs1800734
EPM2AIP1 ; MLH1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 30
rs2227290
EPPIN-WFDC6 ; EPPIN
20 45547503 5 prime UTR variant G/T snv 0.26 1
rs6124715
EPPIN-WFDC6 ; EPPIN
20 45548848 upstream gene variant C/G;T snv 1