rs149481147
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1 | Sarcosinemia |
| (A;G) | 1 | Unaffected carrier of a sarcosinemia allele |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 133729820 |
| Gene | SARDH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs149481147 |
| dbSNP (classic) | rs149481147 |
| ClinGen | rs149481147 |
| ebi | rs149481147 |
| HLI | rs149481147 |
| Exac | rs149481147 |
| Gnomad | rs149481147 |
| Varsome | rs149481147 |
| LitVar | rs149481147 |
| Map | rs149481147 |
| PheGenI | rs149481147 |
| Biobank | rs149481147 |
| 1000 genomes | rs149481147 |
| hgdp | rs149481147 |
| ensembl | rs149481147 |
| geneview | rs149481147 |
| scholar | rs149481147 |
| rs149481147 | |
| pharmgkb | rs149481147 |
| gwascentral | rs149481147 |
| openSNP | rs149481147 |
| 23andMe | rs149481147 |
| SNPshot | rs149481147 |
| SNPdbe | rs149481147 |
| MSV3d | rs149481147 |
| GWAS Ctlg | rs149481147 |
| GMAF | 0.0004591 |
| Max Magnitude | 1 |
rs149481147, also known as P287L, is a variant in the sarcosine dehydrogenase SARDH gene that has been reported to cause sarcosinemia, a condition brought about through autosomal recessive inheritance.[PMID 22825317]
In dbSNP orientation for this SNP, the variant (rare) allele is rs149481147(A).
| ClinVar | |
|---|---|
| Risk | Rs149481147(A;A) |
| Alt | Rs149481147(A;A) |
| Reference | Rs149481147(G;G) |
| Significance | Other |
| Disease | Sarcosine dehydrogenase deficiency |
| Variation | info |
| Gene | SARDH |
| CLNDBN | Sarcosine dehydrogenase deficiency |
| Reversed | 0 |
| HGVS | NC_000009.11:g.136594942G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000032644.4, |
