rs2066836
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2066836(C;T) |
| Make rs2066836(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 95476076 |
| Gene | PTCH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2066836 |
| dbSNP (classic) | rs2066836 |
| ClinGen | rs2066836 |
| ebi | rs2066836 |
| HLI | rs2066836 |
| Exac | rs2066836 |
| Gnomad | rs2066836 |
| Varsome | rs2066836 |
| LitVar | rs2066836 |
| Map | rs2066836 |
| PheGenI | rs2066836 |
| Biobank | rs2066836 |
| 1000 genomes | rs2066836 |
| hgdp | rs2066836 |
| ensembl | rs2066836 |
| geneview | rs2066836 |
| scholar | rs2066836 |
| rs2066836 | |
| pharmgkb | rs2066836 |
| gwascentral | rs2066836 |
| openSNP | rs2066836 |
| 23andMe | rs2066836 |
| SNPshot | rs2066836 |
| SNPdbe | rs2066836 |
| MSV3d | rs2066836 |
| GWAS Ctlg | rs2066836 |
| GMAF | 0.1093 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19937600
] Testing reported associations of genetic risk factors for oral clefts in a large Irish study population
[PMID 20346027] PTCH1 gene haplotype association with basal cell carcinoma after transplantation.
| ClinVar | |
|---|---|
| Risk | rs2066836(T;T) |
| Alt | rs2066836(T;T) |
| Reference | Rs2066836(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Gorlin syndrome Holoprosencephaly Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | PTCH1 |
| CLNDBN | not specified Gorlin syndrome Holoprosencephaly Hereditary cancer-predisposing syndrome |
| Reversed | 1 |
| HGVS | NC_000009.11:g.98238358G>A |
| CLNSRC | |
| CLNACC | RCV000250191.1, RCV000342546.1, RCV000376238.1, RCV000492508.1, |
