rs587776523
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587776523(G;T) |
Make rs587776523(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 129774756 |
Gene | MIR96, MIR183 |
is a | snp |
is | mentioned by |
dbSNP | rs587776523 |
dbSNP (classic) | rs587776523 |
ClinGen | rs587776523 |
ebi | rs587776523 |
HLI | rs587776523 |
Exac | rs587776523 |
Gnomad | rs587776523 |
Varsome | rs587776523 |
LitVar | rs587776523 |
Map | rs587776523 |
PheGenI | rs587776523 |
Biobank | rs587776523 |
1000 genomes | rs587776523 |
hgdp | rs587776523 |
ensembl | rs587776523 |
geneview | rs587776523 |
scholar | rs587776523 |
rs587776523 | |
pharmgkb | rs587776523 |
gwascentral | rs587776523 |
openSNP | rs587776523 |
23andMe | rs587776523 |
SNPshot | rs587776523 |
SNPdbe | rs587776523 |
MSV3d | rs587776523 |
GWAS Ctlg | rs587776523 |
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 | Rs587776523(G;G) rs587776523(T;T) |
Alt | Rs587776523(G;G) rs587776523(T;T) |
Reference | Rs587776523(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | MIR183 MIR96 |
CLNDBN | Deafness, autosomal dominant 50 |
Reversed | 1 |
HGVS | NC_000007.13:g.129414596G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000914.3, |