rs479632
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs479632(C;C) |
| Make rs479632(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 135028828 |
| Gene | PITX1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs479632 |
| dbSNP (classic) | rs479632 |
| ClinGen | rs479632 |
| ebi | rs479632 |
| HLI | rs479632 |
| Exac | rs479632 |
| Gnomad | rs479632 |
| Varsome | rs479632 |
| LitVar | rs479632 |
| Map | rs479632 |
| PheGenI | rs479632 |
| Biobank | rs479632 |
| 1000 genomes | rs479632 |
| hgdp | rs479632 |
| ensembl | rs479632 |
| geneview | rs479632 |
| scholar | rs479632 |
| rs479632 | |
| pharmgkb | rs479632 |
| gwascentral | rs479632 |
| openSNP | rs479632 |
| 23andMe | rs479632 |
| SNPshot | rs479632 |
| SNPdbe | rs479632 |
| MSV3d | rs479632 |
| GWAS Ctlg | rs479632 |
| GMAF | 0.3182 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20054692] Genetic polymorphism of PITX1 in susceptibility to knee osteoarthritis in a Chinese Han population: a case-control study
[PMID 18053270
] Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.
| ClinVar | |
|---|---|
| Risk | rs479632(C;C) |
| Alt | rs479632(C;C) |
| Reference | Rs479632(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | PITX1 |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000005.9:g.134364518C>G |
| CLNSRC | |
| CLNACC | RCV000327204.1, |
