rs199469707
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199469707(C;T) |
| Make rs199469707(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 201640915 |
| Gene | TMEM237 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199469707 |
| dbSNP (classic) | rs199469707 |
| ClinGen | rs199469707 |
| ebi | rs199469707 |
| HLI | rs199469707 |
| Exac | rs199469707 |
| Gnomad | rs199469707 |
| Varsome | rs199469707 |
| LitVar | rs199469707 |
| Map | rs199469707 |
| PheGenI | rs199469707 |
| Biobank | rs199469707 |
| 1000 genomes | rs199469707 |
| hgdp | rs199469707 |
| ensembl | rs199469707 |
| geneview | rs199469707 |
| scholar | rs199469707 |
| rs199469707 | |
| pharmgkb | rs199469707 |
| gwascentral | rs199469707 |
| openSNP | rs199469707 |
| 23andMe | rs199469707 |
| SNPshot | rs199469707 |
| SNPdbe | rs199469707 |
| MSV3d | rs199469707 |
| GWAS Ctlg | rs199469707 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199469707(T;T) |
| Alt | rs199469707(T;T) |
| Reference | Rs199469707(C;C) |
| Significance | Pathogenic |
| Disease | Joubert syndrome 14 Joubert syndrome |
| Variation | info |
| Gene | TMEM237 |
| CLNDBN | Joubert syndrome 14 Joubert syndrome |
| Reversed | 1 |
| HGVS | NC_000002.11:g.202505638G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000024179.2, RCV000034999.1, |
[PMID 17603801] Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.
[PMID 22152675
] TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
