rs121908405
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TTC;TTC) | 0 | common in clinvar |
Make rs121908405(-;-) |
Make rs121908405(-;TTC) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 14716716 |
Gene | ANKH, LOC100130744, OTULIN |
is a | snp |
is | mentioned by |
dbSNP | rs121908405 |
dbSNP (classic) | rs121908405 |
ClinGen | rs121908405 |
ebi | rs121908405 |
HLI | rs121908405 |
Exac | rs121908405 |
Gnomad | rs121908405 |
Varsome | rs121908405 |
LitVar | rs121908405 |
Map | rs121908405 |
PheGenI | rs121908405 |
Biobank | rs121908405 |
1000 genomes | rs121908405 |
hgdp | rs121908405 |
ensembl | rs121908405 |
geneview | rs121908405 |
scholar | rs121908405 |
rs121908405 | |
pharmgkb | rs121908405 |
gwascentral | rs121908405 |
openSNP | rs121908405 |
23andMe | rs121908405 |
SNPshot | rs121908405 |
SNPdbe | rs121908405 |
MSV3d | rs121908405 |
GWAS Ctlg | rs121908405 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908405(-;-) |
Alt | rs121908405(-;-) |
Reference | Rs121908405(TTC;TTC) |
Significance | Pathogenic |
Disease | Craniometaphyseal dysplasia |
Variation | info |
Gene | LOC100130744 ANKH |
CLNDBN | Craniometaphyseal dysplasia, autosomal dominant |
Reversed | 1 |
HGVS | NC_000005.9:g.14716825_14716827delGAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005501.2, |