Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1566687487
GCH1
14 54902537 frameshift variant -/G delins 1
rs879253799
DCAF17
0.882 0.320 2 171443559 frameshift variant A/- delins 5
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs267606695
CA8
1.000 0.160 8 60266044 missense variant A/C;G snv 5
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs80358259
NPC1
0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 9
rs121917763
TH
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 5
rs1566658823
GCH1
1.000 0.120 14 54844138 missense variant A/G snv 4
rs104893665
SPR
1.000 0.200 2 72888457 missense variant A/G snv 5.6E-05 5.6E-05 2
rs761104644
ZNF415
19 53109614 missense variant A/G snv 4.0E-06 2
rs797045055
ND5 ; ND6 ; CYTB
1.000 0.080 MT 14597 missense variant A/G snv 2
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs864309484
ADCY5
1.000 0.080 3 123291354 missense variant A/T snv 4
rs121917747
SPR
1.000 0.200 2 72891502 stop gained A/T snv 8.0E-05 5.6E-05 2
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del 7
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs3842225
TOR1A
0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16 6
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del 4
rs35153737
TOR1A
9 129813558 3 prime UTR variant C/- del 0.14 2
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs1555507479
GNAO1
0.807 0.160 16 56336799 missense variant C/A snv 12
rs1182
TOR1A
0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17 9
rs531630376
PCDH12
1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 4
rs786205675
HPCA
1.000 0.080 1 32889123 missense variant C/A snv 3