rs13317
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs13317(C;C) |
| Make rs13317(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 38411996 |
| Gene | FGFR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs13317 |
| dbSNP (classic) | rs13317 |
| ClinGen | rs13317 |
| ebi | rs13317 |
| HLI | rs13317 |
| Exac | rs13317 |
| Gnomad | rs13317 |
| Varsome | rs13317 |
| LitVar | rs13317 |
| Map | rs13317 |
| PheGenI | rs13317 |
| Biobank | rs13317 |
| 1000 genomes | rs13317 |
| hgdp | rs13317 |
| ensembl | rs13317 |
| geneview | rs13317 |
| scholar | rs13317 |
| rs13317 | |
| pharmgkb | rs13317 |
| gwascentral | rs13317 |
| openSNP | rs13317 |
| 23andMe | rs13317 |
| SNPshot | rs13317 |
| SNPdbe | rs13317 |
| MSV3d | rs13317 |
| GWAS Ctlg | rs13317 |
| GMAF | 0.2759 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19727229] Correlation of the SNPs of FGFR1, FGF10, FGF18 with nonsyndromic cleft lip with or without palate in Chinese population
[PMID 17318851
] Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis.
[PMID 17360555] Impaired FGF signaling contributes to cleft lip and palate.
[PMID 17366557] A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23.
[PMID 18478591] Studies of genes in the FGF signaling pathway and oral clefts with or without dental anomalies.
[PMID 23939983] Polymorphisms in BMP4 and FGFR1 genes are associated with fracture non-union
[PMID 24129055] Evidence of genetic variations associated with rotator cuff disease
[PMID 24385678] Involvement of fibroblast growth factor receptor genes in benign prostate hyperplasia in a Korean population
[PMID 27567908] Association Between Single Nucleotide Polymorphisms in NFATC1 Signaling Pathway Genes and Susceptibility to Congenital Heart Disease in the Chinese Population.
| ClinVar | |
|---|---|
| Risk | rs13317(C;C) |
| Alt | rs13317(C;C) |
| Reference | Rs13317(T;T) |
| Significance | Non-pathogenic |
| Disease | Pfeiffer syndrome Osteoglophonic dysplasia Nonsyndromic Trigonocephaly Craniosynostosis Hypogonadism with anosmia |
| Variation | info |
| Gene | FGFR1 |
| CLNDBN | Pfeiffer syndrome Osteoglophonic dysplasia Nonsyndromic Trigonocephaly Craniosynostosis Hypogonadism with anosmia |
| Reversed | 0 |
| HGVS | NC_000008.10:g.38269514T>C |
| CLNSRC | |
| CLNACC | RCV000289421.1, RCV000292916.1, RCV000328076.1, RCV000350094.1, RCV000384896.1, |
[PMID 30172247] Association between PTCH1 and RAD54B single-nucleotide polymorphisms and non-syndromic orofacial clefts in a northern Chinese population.
