rs119465999
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs119465999(C;T) |
| Make rs119465999(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 69165386 |
| Gene | UTP4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs119465999 |
| dbSNP (classic) | rs119465999 |
| ClinGen | rs119465999 |
| ebi | rs119465999 |
| HLI | rs119465999 |
| Exac | rs119465999 |
| Gnomad | rs119465999 |
| Varsome | rs119465999 |
| LitVar | rs119465999 |
| Map | rs119465999 |
| PheGenI | rs119465999 |
| Biobank | rs119465999 |
| 1000 genomes | rs119465999 |
| hgdp | rs119465999 |
| ensembl | rs119465999 |
| geneview | rs119465999 |
| scholar | rs119465999 |
| rs119465999 | |
| pharmgkb | rs119465999 |
| gwascentral | rs119465999 |
| openSNP | rs119465999 |
| 23andMe | rs119465999 |
| SNPshot | rs119465999 |
| SNPdbe | rs119465999 |
| MSV3d | rs119465999 |
| GWAS Ctlg | rs119465999 |
| GMAF | 0.002296 |
| Max Magnitude | 0 |
rs119465999, also known as c.1693C>T, p.Arg565Trp and R565W, is a SNP in the CIRH1A gene on chromosome 16.
Previously reported as pathogenic, however, frequency analysis and associated phenotypic data leads to the conclusion that this variant is highly likely to actually be benign.10.1101/030338
| ClinVar | |
|---|---|
| Risk | rs119465999(A;A) rs119465999(T;T) |
| Alt | rs119465999(A;A) rs119465999(T;T) |
| Reference | Rs119465999(C;C) |
| Significance | Pathogenic |
| Disease | North american indian childhood cirrhosis |
| Variation | info |
| Gene | CIRH1A UTP4 |
| CLNDBN | North american indian childhood cirrhosis |
| Reversed | 0 |
| HGVS | NC_000016.9:g.69199289C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003345.7, |
