rs17116350
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs17116350(C;C) |
| Make rs17116350(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 104033992 |
| Gene | COL17A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17116350 |
| dbSNP (classic) | rs17116350 |
| ClinGen | rs17116350 |
| ebi | rs17116350 |
| HLI | rs17116350 |
| Exac | rs17116350 |
| Gnomad | rs17116350 |
| Varsome | rs17116350 |
| LitVar | rs17116350 |
| Map | rs17116350 |
| PheGenI | rs17116350 |
| Biobank | rs17116350 |
| 1000 genomes | rs17116350 |
| hgdp | rs17116350 |
| ensembl | rs17116350 |
| geneview | rs17116350 |
| scholar | rs17116350 |
| rs17116350 | |
| pharmgkb | rs17116350 |
| gwascentral | rs17116350 |
| openSNP | rs17116350 |
| 23andMe | rs17116350 |
| SNPshot | rs17116350 |
| SNPdbe | rs17116350 |
| MSV3d | rs17116350 |
| GWAS Ctlg | rs17116350 |
| GMAF | 0.2342 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 16252234
] Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.
[PMID 16385451] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
| ClinVar | |
|---|---|
| Risk | rs17116350(C;C) rs17116350(G;G) |
| Alt | rs17116350(C;C) rs17116350(G;G) |
| Reference | Rs17116350(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Epidermolysis bullosa |
| Variation | info |
| Gene | COL17A1 |
| CLNDBN | not specified Epidermolysis bullosa, junctional |
| Reversed | 0 |
| HGVS | NC_000010.10:g.105793750T>C |
| CLNSRC | |
| CLNACC | RCV000247403.1, RCV000307690.1, |
