rs869312722
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs869312722(A;G) |
| Make rs869312722(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 20 |
| Position | 6122775 |
| Gene | FERMT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs869312722 |
| dbSNP (classic) | rs869312722 |
| ClinGen | rs869312722 |
| ebi | rs869312722 |
| HLI | rs869312722 |
| Exac | rs869312722 |
| Gnomad | rs869312722 |
| Varsome | rs869312722 |
| LitVar | rs869312722 |
| Map | rs869312722 |
| PheGenI | rs869312722 |
| Biobank | rs869312722 |
| 1000 genomes | rs869312722 |
| hgdp | rs869312722 |
| ensembl | rs869312722 |
| geneview | rs869312722 |
| scholar | rs869312722 |
| rs869312722 | |
| pharmgkb | rs869312722 |
| gwascentral | rs869312722 |
| openSNP | rs869312722 |
| 23andMe | rs869312722 |
| SNPshot | rs869312722 |
| SNPdbe | rs869312722 |
| MSV3d | rs869312722 |
| GWAS Ctlg | rs869312722 |
| 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 | rs869312722(G;G) |
| Alt | rs869312722(G;G) |
| Reference | Rs869312722(A;A) |
| Significance | Pathogenic |
| Disease | Kindler's syndrome |
| Variation | info |
| Gene | FERMT1 |
| CLNDBN | Kindler's syndrome |
| Reversed | 1 |
| HGVS | NC_000020.10:g.6103422T>C |
| CLNSRC | |
| CLNACC | RCV000209860.1, |
