rs72547571
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a Sjogren-Larsson syndrome mutation |
| Make rs72547571(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 19663335 |
| Gene | ALDH3A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72547571 |
| dbSNP (classic) | rs72547571 |
| ClinGen | rs72547571 |
| ebi | rs72547571 |
| HLI | rs72547571 |
| Exac | rs72547571 |
| Gnomad | rs72547571 |
| Varsome | rs72547571 |
| LitVar | rs72547571 |
| Map | rs72547571 |
| PheGenI | rs72547571 |
| Biobank | rs72547571 |
| 1000 genomes | rs72547571 |
| hgdp | rs72547571 |
| ensembl | rs72547571 |
| geneview | rs72547571 |
| scholar | rs72547571 |
| rs72547571 | |
| pharmgkb | rs72547571 |
| gwascentral | rs72547571 |
| openSNP | rs72547571 |
| 23andMe | rs72547571 |
| SNPshot | rs72547571 |
| SNPdbe | rs72547571 |
| MSV3d | rs72547571 |
| GWAS Ctlg | rs72547571 |
| Max Magnitude | 3 |
rs72547571, also known as c.943C>T, P315S or p.Pro315Ser, is a mutation in the fatty aldehyde dehydrogenase ALDH3A2 gene.
Inherited as an autosomal recessive, two copies of the risk allele rs72547571(T), or one copy plus another defective ALDH3A2 allele, leads to Sjogren-Larsson syndrome.
| ClinVar | |
|---|---|
| Risk | rs72547571(T;T) |
| Alt | rs72547571(T;T) |
| Reference | Rs72547571(C;C) |
| Significance | Pathogenic |
| Disease | Sjögren-Larsson syndrome not provided |
| Variation | info |
| Gene | ALDH3A2 |
| CLNDBN | Sjögren-Larsson syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.19566648C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001707.5, RCV000255529.2, |
