rs267606869
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs267606869(A;G) |
| Make rs267606869(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 22130605 |
| Gene | HR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267606869 |
| dbSNP (classic) | rs267606869 |
| ClinGen | rs267606869 |
| ebi | rs267606869 |
| HLI | rs267606869 |
| Exac | rs267606869 |
| Gnomad | rs267606869 |
| Varsome | rs267606869 |
| LitVar | rs267606869 |
| Map | rs267606869 |
| PheGenI | rs267606869 |
| Biobank | rs267606869 |
| 1000 genomes | rs267606869 |
| hgdp | rs267606869 |
| ensembl | rs267606869 |
| geneview | rs267606869 |
| scholar | rs267606869 |
| rs267606869 | |
| pharmgkb | rs267606869 |
| gwascentral | rs267606869 |
| openSNP | rs267606869 |
| 23andMe | rs267606869 |
| SNPshot | rs267606869 |
| SNPdbe | rs267606869 |
| MSV3d | rs267606869 |
| GWAS Ctlg | rs267606869 |
| 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 | rs267606869(G;G) |
| Alt | rs267606869(G;G) |
| Reference | Rs267606869(A;A) |
| Significance | Pathogenic |
| Disease | Hypotrichosis 4 |
| Variation | info |
| Gene | HR |
| CLNDBN | Hypotrichosis 4 |
| Reversed | 1 |
| HGVS | NC_000008.10:g.21988118T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007769.3, |
