rs397514654
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs397514654(C;C) |
| Make rs397514654(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 69278711 |
| Gene | HK1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397514654 |
| dbSNP (classic) | rs397514654 |
| ClinGen | rs397514654 |
| ebi | rs397514654 |
| HLI | rs397514654 |
| Exac | rs397514654 |
| Gnomad | rs397514654 |
| Varsome | rs397514654 |
| LitVar | rs397514654 |
| Map | rs397514654 |
| PheGenI | rs397514654 |
| Biobank | rs397514654 |
| 1000 genomes | rs397514654 |
| hgdp | rs397514654 |
| ensembl | rs397514654 |
| geneview | rs397514654 |
| scholar | rs397514654 |
| rs397514654 | |
| pharmgkb | rs397514654 |
| gwascentral | rs397514654 |
| openSNP | rs397514654 |
| 23andMe | rs397514654 |
| SNPshot | rs397514654 |
| SNPdbe | rs397514654 |
| MSV3d | rs397514654 |
| GWAS Ctlg | rs397514654 |
| 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.
Also: Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.
| ClinVar | |
|---|---|
| Risk | rs397514654(C;C) |
| Alt | rs397514654(C;C) |
| Reference | Rs397514654(G;G) |
| Significance | Pathogenic |
| Disease | Neuropathy |
| Variation | info |
| Gene | HK1 |
| CLNDBN | Neuropathy, hereditary motor and sensory, russe type |
| Reversed | 0 |
| HGVS | NC_000010.10:g.71038467G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000033228.28, |
