rs121434292
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (C;T) | 3 | Carrier of an acrodermatitis enteropathica mutation |
| Make rs121434292(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 144416001 |
| Gene | SLC39A4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121434292 |
| dbSNP (classic) | rs121434292 |
| ClinGen | rs121434292 |
| ebi | rs121434292 |
| HLI | rs121434292 |
| Exac | rs121434292 |
| Gnomad | rs121434292 |
| Varsome | rs121434292 |
| LitVar | rs121434292 |
| Map | rs121434292 |
| PheGenI | rs121434292 |
| Biobank | rs121434292 |
| 1000 genomes | rs121434292 |
| hgdp | rs121434292 |
| ensembl | rs121434292 |
| geneview | rs121434292 |
| scholar | rs121434292 |
| rs121434292 | |
| pharmgkb | rs121434292 |
| gwascentral | rs121434292 |
| openSNP | rs121434292 |
| 23andMe | rs121434292 |
| SNPshot | rs121434292 |
| SNPdbe | rs121434292 |
| MSV3d | rs121434292 |
| GWAS Ctlg | rs121434292 |
| Max Magnitude | 3 |
aka c.283C>T (p.Arg95Cys)
Note that dbSNP reports the existence of an alternate alternate allele, c.283C>A (p.Arg95Ser), but the pathogenicity is not reported.
| ClinVar | |
|---|---|
| Risk | rs121434292(A;A) rs121434292(T;T) |
| Alt | rs121434292(A;A) rs121434292(T;T) |
| Reference | Rs121434292(C;C) |
| Significance | Pathogenic |
| Disease | Hereditary acrodermatitis enteropathica |
| Variation | info |
| Gene | SLC39A4 |
| CLNDBN | Hereditary acrodermatitis enteropathica |
| Reversed | 1 |
| HGVS | NC_000008.10:g.145641385G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003722.3, |
