rs80338795
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs80338795(A;G) |
| Make rs80338795(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 73641810 |
| Gene | SLC17A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338795 |
| dbSNP (classic) | rs80338795 |
| ClinGen | rs80338795 |
| ebi | rs80338795 |
| HLI | rs80338795 |
| Exac | rs80338795 |
| Gnomad | rs80338795 |
| Varsome | rs80338795 |
| LitVar | rs80338795 |
| Map | rs80338795 |
| PheGenI | rs80338795 |
| Biobank | rs80338795 |
| 1000 genomes | rs80338795 |
| hgdp | rs80338795 |
| ensembl | rs80338795 |
| geneview | rs80338795 |
| scholar | rs80338795 |
| rs80338795 | |
| pharmgkb | rs80338795 |
| gwascentral | rs80338795 |
| openSNP | rs80338795 |
| 23andMe | rs80338795 |
| SNPshot | rs80338795 |
| SNPdbe | rs80338795 |
| MSV3d | rs80338795 |
| GWAS Ctlg | rs80338795 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338795(G;G) rs80338795(T;T) |
| Alt | rs80338795(G;G) rs80338795(T;T) |
| Reference | Rs80338795(A;A) |
| Significance | Other |
| Disease | Salla disease not provided |
| Variation | info |
| Gene | SLC17A5 |
| CLNDBN | Salla disease not provided |
| Reversed | 1 |
| HGVS | NC_000006.11:g.74351533T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000020682.5, RCV000412731.1, |
[PMID 16170568] Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.
