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
rs1372180906
MIR4686 ; TH
11 2171856 5 prime UTR variant C/T snv 7.0E-06 1
rs113371321
NPC1
18 23534477 missense variant G/A;C snv 1.2E-04 1
rs398122845
CASK
1.000 0.080 X 41524036 splice acceptor variant T/A;C snv 2
rs753374463
GNAL
18 11689847 missense variant T/C snv 2.2E-05 2.1E-05 2
rs1296383102
HIBCH
2 190208898 missense variant G/C snv 4.0E-06 2
rs574658589
HPCA
1 32888928 synonymous variant C/T snv 1.2E-05 2
rs797045055
ND5 ; ND6 ; CYTB
1.000 0.080 MT 14597 missense variant A/G snv 2
rs1057518942
NPC1
1.000 0.160 18 23544424 missense variant G/A snv 2
rs104893665
SPR
1.000 0.200 2 72888457 missense variant A/G snv 5.6E-05 5.6E-05 2
rs121917747
SPR
1.000 0.200 2 72891502 stop gained A/T snv 8.0E-05 5.6E-05 2
rs45471299
TH
1.000 0.040 11 2164339 missense variant G/A snv 4.0E-05 2.1E-05 2
rs146087734
THAP1
8 42843038 synonymous variant G/A snv 7.6E-05 1.5E-04 2
rs142909469
TOR1A
9 129818877 missense variant G/A;C snv 3.0E-04; 4.0E-06 2
rs1476648522
TOR1A
9 129814009 missense variant G/A snv 8.0E-06; 1.2E-05 3.5E-05 2
rs35153737
TOR1A
9 129813558 3 prime UTR variant C/- del 0.14 2
rs80358233
TOR1A
1.000 0.080 9 129814062 inframe deletion CTC/- delins 4.9E-05 2
rs761104644
ZNF415
19 53109614 missense variant A/G snv 4.0E-06 2
rs150321966
ECHS1
0.925 0.040 10 133366990 missense variant G/A snv 2.6E-04 1.3E-04 3
rs754609693
ECHS1
0.925 0.040 10 133366967 missense variant G/A snv 1.6E-05 1.4E-05 3
rs786205861
GCDH
1.000 0.120 19 12896913 missense variant C/T snv 3
rs104894442
GCH1
1.000 0.040 14 54844023 missense variant C/G snv 4.0E-06 3
rs550921485
HPCA
1.000 0.080 1 32893848 missense variant G/A snv 4.9E-04 7.0E-05 3
rs775863165
HPCA
1.000 0.080 1 32889110 missense variant C/A;T snv 4.0E-06 3
rs786205675
HPCA
1.000 0.080 1 32889123 missense variant C/A snv 3