rs76434661
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs76434661(C;T) |
Make rs76434661(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 20189166 |
Gene | GJB2 |
is a | snp |
is | mentioned by |
dbSNP | rs76434661 |
dbSNP (classic) | rs76434661 |
ClinGen | rs76434661 |
ebi | rs76434661 |
HLI | rs76434661 |
Exac | rs76434661 |
Gnomad | rs76434661 |
Varsome | rs76434661 |
LitVar | rs76434661 |
Map | rs76434661 |
PheGenI | rs76434661 |
Biobank | rs76434661 |
1000 genomes | rs76434661 |
hgdp | rs76434661 |
ensembl | rs76434661 |
geneview | rs76434661 |
scholar | rs76434661 |
rs76434661 | |
pharmgkb | rs76434661 |
gwascentral | rs76434661 |
openSNP | rs76434661 |
23andMe | rs76434661 |
SNPshot | rs76434661 |
SNPdbe | rs76434661 |
MSV3d | rs76434661 |
GWAS Ctlg | rs76434661 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs76434661(T;T) |
Alt | rs76434661(T;T) |
Reference | Rs76434661(C;C) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness Hearing impairment not provided Deafness |
Variation | info |
Gene | GJB2 |
CLNDBN | Nonsyndromic hearing loss and deafness Hearing impairment not provided Deafness, autosomal recessive 1A Deafness, autosomal dominant 3a |
Reversed | 0 |
HGVS | NC_000013.10:g.20763305C>T |
CLNSRC | ClinVar University of Chicago |
CLNACC | RCV000037851.2, RCV000146022.1, RCV000255015.1, RCV000289146.2, RCV000409236.1, |