rs6996321
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs6996321(A;A) |
| Make rs6996321(A;G) |
| Make rs6996321(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 38464828 |
| Gene | FGFR1, LOC107986937 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6996321 |
| dbSNP (classic) | rs6996321 |
| ClinGen | rs6996321 |
| ebi | rs6996321 |
| HLI | rs6996321 |
| Exac | rs6996321 |
| Gnomad | rs6996321 |
| Varsome | rs6996321 |
| LitVar | rs6996321 |
| Map | rs6996321 |
| PheGenI | rs6996321 |
| Biobank | rs6996321 |
| 1000 genomes | rs6996321 |
| hgdp | rs6996321 |
| ensembl | rs6996321 |
| geneview | rs6996321 |
| scholar | rs6996321 |
| rs6996321 | |
| pharmgkb | rs6996321 |
| gwascentral | rs6996321 |
| openSNP | rs6996321 |
| 23andMe | rs6996321 |
| SNPshot | rs6996321 |
| SNPdbe | rs6996321 |
| MSV3d | rs6996321 |
| GWAS Ctlg | rs6996321 |
| GMAF | 0.399 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
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[PMID 18469019] rs6996321 significantly related to spine bone mineral density (p=0.002) and rs10914367 associated with hip BMD (p=0.028). Non-vertebral fracture risk was significantly increased in carriers of 'A' allele of rs9900972 (OR=2.06, p=0.0187)
[PMID 17318851
] Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis.
[PMID 17366557] A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23.
