rs4935502
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs4935502(G;G) |
| Make rs4935502(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 54195684 |
| Gene | PCDH15 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4935502 |
| dbSNP (classic) | rs4935502 |
| ClinGen | rs4935502 |
| ebi | rs4935502 |
| HLI | rs4935502 |
| Exac | rs4935502 |
| Gnomad | rs4935502 |
| Varsome | rs4935502 |
| LitVar | rs4935502 |
| Map | rs4935502 |
| PheGenI | rs4935502 |
| Biobank | rs4935502 |
| 1000 genomes | rs4935502 |
| hgdp | rs4935502 |
| ensembl | rs4935502 |
| geneview | rs4935502 |
| scholar | rs4935502 |
| rs4935502 | |
| pharmgkb | rs4935502 |
| gwascentral | rs4935502 |
| openSNP | rs4935502 |
| 23andMe | rs4935502 |
| SNPshot | rs4935502 |
| SNPdbe | rs4935502 |
| MSV3d | rs4935502 |
| GWAS Ctlg | rs4935502 |
| GMAF | 0.3375 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs4935502(G;G) |
| Alt | rs4935502(G;G) |
| Reference | Rs4935502(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Nonsyndromic Hearing Loss Retinitis pigmentosa-deafness syndrome |
| Variation | info |
| Gene | PCDH15 |
| CLNDBN | not specified Nonsyndromic Hearing Loss, Recessive Retinitis pigmentosa-deafness syndrome |
| Reversed | 0 |
| HGVS | NC_000010.10:g.55955444T>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000039699.3, RCV000287532.1, RCV000333000.1, |
[PMID 16385451
] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
[PMID 19816713] A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia.
