rs753874439
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs753874439(C;T) |
| Make rs753874439(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 9 |
| Position | 35657872 |
| Gene | CCDC107, RMRP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs753874439 |
| dbSNP (classic) | rs753874439 |
| ClinGen | rs753874439 |
| ebi | rs753874439 |
| HLI | rs753874439 |
| Exac | rs753874439 |
| Gnomad | rs753874439 |
| Varsome | rs753874439 |
| LitVar | rs753874439 |
| Map | rs753874439 |
| PheGenI | rs753874439 |
| Biobank | rs753874439 |
| 1000 genomes | rs753874439 |
| hgdp | rs753874439 |
| ensembl | rs753874439 |
| geneview | rs753874439 |
| scholar | rs753874439 |
| rs753874439 | |
| pharmgkb | rs753874439 |
| gwascentral | rs753874439 |
| openSNP | rs753874439 |
| 23andMe | rs753874439 |
| SNPshot | rs753874439 |
| SNPdbe | rs753874439 |
| MSV3d | rs753874439 |
| GWAS Ctlg | rs753874439 |
| 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 | rs753874439(G;G) rs753874439(T;T) |
| Alt | rs753874439(G;G) rs753874439(T;T) |
| Reference | Rs753874439(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | CCDC107 RMRP |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000009.11:g.35657869C>T |
| CLNSRC | |
| CLNACC | RCV000423744.1, |
