rs357565
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs357565(A;A) |
| Make rs357565(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 95443161 |
| Gene | PTCH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs357565 |
| dbSNP (classic) | rs357565 |
| ClinGen | rs357565 |
| ebi | rs357565 |
| HLI | rs357565 |
| Exac | rs357565 |
| Gnomad | rs357565 |
| Varsome | rs357565 |
| LitVar | rs357565 |
| Map | rs357565 |
| PheGenI | rs357565 |
| Biobank | rs357565 |
| 1000 genomes | rs357565 |
| hgdp | rs357565 |
| ensembl | rs357565 |
| geneview | rs357565 |
| scholar | rs357565 |
| rs357565 | |
| pharmgkb | rs357565 |
| gwascentral | rs357565 |
| openSNP | rs357565 |
| 23andMe | rs357565 |
| SNPshot | rs357565 |
| SNPdbe | rs357565 |
| MSV3d | rs357565 |
| GWAS Ctlg | rs357565 |
| GMAF | 0.2273 |
| Max Magnitude | 0 |
[PMID 24073265
] Common Genetic Variations in Patched1 (PTCH1) Gene and Risk of Hirschsprung Disease in the Han Chinese Population
| ClinVar | |
|---|---|
| Risk | rs357565(A;A) |
| Alt | rs357565(A;A) |
| Reference | Rs357565(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Gorlin syndrome Holoprosencephaly |
| Variation | info |
| Gene | PTCH1 |
| CLNDBN | Gorlin syndrome Holoprosencephaly |
| Reversed | 0 |
| HGVS | NC_000009.11:g.98205443C>A |
| CLNSRC | |
| CLNACC | RCV000293422.1, RCV000385398.1, |
