rs1064797101
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AACTT;AACTT) | 0 | common in clinvar |
Chromosome | 8 |
Position | 91078419 |
Gene | OTUD6B |
is a | snp |
is | mentioned by |
dbSNP | rs1064797101 |
dbSNP (classic) | rs1064797101 |
ClinGen | rs1064797101 |
ebi | rs1064797101 |
HLI | rs1064797101 |
Exac | rs1064797101 |
Gnomad | rs1064797101 |
Varsome | rs1064797101 |
LitVar | rs1064797101 |
Map | rs1064797101 |
PheGenI | rs1064797101 |
Biobank | rs1064797101 |
1000 genomes | rs1064797101 |
hgdp | rs1064797101 |
ensembl | rs1064797101 |
geneview | rs1064797101 |
scholar | rs1064797101 |
rs1064797101 | |
pharmgkb | rs1064797101 |
gwascentral | rs1064797101 |
openSNP | rs1064797101 |
23andMe | rs1064797101 |
SNPshot | rs1064797101 |
SNPdbe | rs1064797101 |
MSV3d | rs1064797101 |
GWAS Ctlg | rs1064797101 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1064797101(-;-) |
Alt | rs1064797101(-;-) |
Reference | Rs1064797101(AACTT;AACTT) |
Significance | Pathogenic |
Disease | Intellectual developmental disorder with dysmorphic facies Dysmorphic features Intellectual disability Seizure Disorders |
Variation | info |
Gene | OTUD6B |
CLNDBN | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies Dysmorphic features Intellectual disability Seizure Disorders |
Reversed | 0 |
HGVS | NC_000008.10:g.92090647_92090651delTTAAC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000487729.1, RCV000491466.1, |