rs121908250
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs121908250(A;A) |
| Make rs121908250(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 59480228 |
| Gene | CCBE1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908250 |
| dbSNP (classic) | rs121908250 |
| ClinGen | rs121908250 |
| ebi | rs121908250 |
| HLI | rs121908250 |
| Exac | rs121908250 |
| Gnomad | rs121908250 |
| Varsome | rs121908250 |
| LitVar | rs121908250 |
| Map | rs121908250 |
| PheGenI | rs121908250 |
| Biobank | rs121908250 |
| 1000 genomes | rs121908250 |
| hgdp | rs121908250 |
| ensembl | rs121908250 |
| geneview | rs121908250 |
| scholar | rs121908250 |
| rs121908250 | |
| pharmgkb | rs121908250 |
| gwascentral | rs121908250 |
| openSNP | rs121908250 |
| 23andMe | rs121908250 |
| SNPshot | rs121908250 |
| SNPdbe | rs121908250 |
| MSV3d | rs121908250 |
| GWAS Ctlg | rs121908250 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121908250(A;A) |
| Alt | rs121908250(A;A) |
| Reference | Rs121908250(T;T) |
| Significance | Pathogenic |
| Disease | Hennekam lymphangiectasia-lymphedema syndrome not provided |
| Variation | info |
| Gene | CCBE1 |
| CLNDBN | Hennekam lymphangiectasia-lymphedema syndrome not provided |
| Reversed | 1 |
| HGVS | NC_000018.9:g.57147460A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000000474.4, RCV000434998.1, |
[PMID 19911200] Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.
[PMID 19935664] Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
