rs3777134
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs3777134(C;T) |
| Make rs3777134(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 148118456 |
| Gene | SPINK5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3777134 |
| dbSNP (classic) | rs3777134 |
| ClinGen | rs3777134 |
| ebi | rs3777134 |
| HLI | rs3777134 |
| Exac | rs3777134 |
| Gnomad | rs3777134 |
| Varsome | rs3777134 |
| LitVar | rs3777134 |
| Map | rs3777134 |
| PheGenI | rs3777134 |
| Biobank | rs3777134 |
| 1000 genomes | rs3777134 |
| hgdp | rs3777134 |
| ensembl | rs3777134 |
| geneview | rs3777134 |
| scholar | rs3777134 |
| rs3777134 | |
| pharmgkb | rs3777134 |
| gwascentral | rs3777134 |
| openSNP | rs3777134 |
| 23andMe | rs3777134 |
| SNPshot | rs3777134 |
| SNPdbe | rs3777134 |
| MSV3d | rs3777134 |
| GWAS Ctlg | rs3777134 |
| GMAF | 0.4936 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs3777134(T;T) |
| Alt | rs3777134(T;T) |
| Reference | Rs3777134(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Netherton syndrome |
| Variation | info |
| Gene | SPINK5 |
| CLNDBN | not specified Netherton syndrome |
| Reversed | 1 |
| HGVS | NC_000005.9:g.147498019G>A |
| CLNSRC | |
| CLNACC | RCV000247596.1, RCV000338362.1, |
