rs267606868
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267606868(C;G) |
Make rs267606868(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 22130636 |
Gene | HR |
is a | snp |
is | mentioned by |
dbSNP | rs267606868 |
dbSNP (classic) | rs267606868 |
ClinGen | rs267606868 |
ebi | rs267606868 |
HLI | rs267606868 |
Exac | rs267606868 |
Gnomad | rs267606868 |
Varsome | rs267606868 |
LitVar | rs267606868 |
Map | rs267606868 |
PheGenI | rs267606868 |
Biobank | rs267606868 |
1000 genomes | rs267606868 |
hgdp | rs267606868 |
ensembl | rs267606868 |
geneview | rs267606868 |
scholar | rs267606868 |
rs267606868 | |
pharmgkb | rs267606868 |
gwascentral | rs267606868 |
openSNP | rs267606868 |
23andMe | rs267606868 |
SNPshot | rs267606868 |
SNPdbe | rs267606868 |
MSV3d | rs267606868 |
GWAS Ctlg | rs267606868 |
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 | rs267606868(G;G) |
Alt | rs267606868(G;G) |
Reference | Rs267606868(C;C) |
Significance | Pathogenic |
Disease | Hypotrichosis 4 |
Variation | info |
Gene | HR |
CLNDBN | Hypotrichosis 4 |
Reversed | 1 |
HGVS | NC_000008.10:g.21988149G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007768.4, |