rs398124636
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs398124636(C;T) |
| Make rs398124636(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 48965347 |
| Gene | FTL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398124636 |
| dbSNP (classic) | rs398124636 |
| ClinGen | rs398124636 |
| ebi | rs398124636 |
| HLI | rs398124636 |
| Exac | rs398124636 |
| Gnomad | rs398124636 |
| Varsome | rs398124636 |
| LitVar | rs398124636 |
| Map | rs398124636 |
| PheGenI | rs398124636 |
| Biobank | rs398124636 |
| 1000 genomes | rs398124636 |
| hgdp | rs398124636 |
| ensembl | rs398124636 |
| geneview | rs398124636 |
| scholar | rs398124636 |
| rs398124636 | |
| pharmgkb | rs398124636 |
| gwascentral | rs398124636 |
| openSNP | rs398124636 |
| 23andMe | rs398124636 |
| SNPshot | rs398124636 |
| SNPdbe | rs398124636 |
| MSV3d | rs398124636 |
| GWAS Ctlg | rs398124636 |
| Max Magnitude | 0 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
| ClinVar | |
|---|---|
| Risk | rs398124636(T;T) |
| Alt | rs398124636(T;T) |
| Reference | Rs398124636(C;C) |
| Significance | Pathogenic |
| Disease | Hyperferritinemia cataract syndrome |
| Variation | info |
| Gene | FTL |
| CLNDBN | Hyperferritinemia cataract syndrome |
| Reversed | 0 |
| HGVS | NC_000019.9:g.49468604C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017944.26, |
