rs11555096
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs11555096(C;T) |
| Make rs11555096(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 15 |
| Position | 80180184 |
| Gene | FAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11555096 |
| dbSNP (classic) | rs11555096 |
| ClinGen | rs11555096 |
| ebi | rs11555096 |
| HLI | rs11555096 |
| Exac | rs11555096 |
| Gnomad | rs11555096 |
| Varsome | rs11555096 |
| LitVar | rs11555096 |
| Map | rs11555096 |
| PheGenI | rs11555096 |
| Biobank | rs11555096 |
| 1000 genomes | rs11555096 |
| hgdp | rs11555096 |
| ensembl | rs11555096 |
| geneview | rs11555096 |
| scholar | rs11555096 |
| rs11555096 | |
| pharmgkb | rs11555096 |
| gwascentral | rs11555096 |
| openSNP | rs11555096 |
| 23andMe | rs11555096 |
| SNPshot | rs11555096 |
| SNPdbe | rs11555096 |
| MSV3d | rs11555096 |
| GWAS Ctlg | rs11555096 |
| GMAF | 0.01056 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs11555096(T;T) |
| Alt | rs11555096(T;T) |
| Reference | Rs11555096(C;C) |
| Significance | Other |
| Disease | Fumarylacetoacetase pseudodeficiency Tyrosinemia type I not provided |
| Variation | info |
| Gene | FAH |
| CLNDBN | Fumarylacetoacetase pseudodeficiency Tyrosinemia type I not provided |
| Reversed | 0 |
| HGVS | NC_000015.9:g.80472526C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012643.4, RCV000020125.2, RCV000174220.2, |
Association with Tyrosinemia Type I
[PMID 30902755
] Genome-wide sequence analyses of ethnic populations across Russia.
[PMID 30858532] Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy.
[PMID 30072576] Co-regulatory networks of human serum proteins link genetics to disease.
[PMID 29875488] Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.
[PMID 20429872] Genomic atlas of the human plasma proteome.
[PMID 20301688] Tyrosinemia Type I.
[PMID 11278491] Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.
[PMID 7977370] Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.
