rs876657693
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCCAACACTGT;CCCAACACTGT) | 0 | common in clinvar |
Make rs876657693(-;-) |
Make rs876657693(-;CCCAACACTGT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 20189049 |
Gene | GJB2 |
is a | snp |
is | mentioned by |
dbSNP | rs876657693 |
dbSNP (classic) | rs876657693 |
ClinGen | rs876657693 |
ebi | rs876657693 |
HLI | rs876657693 |
Exac | rs876657693 |
Gnomad | rs876657693 |
Varsome | rs876657693 |
LitVar | rs876657693 |
Map | rs876657693 |
PheGenI | rs876657693 |
Biobank | rs876657693 |
1000 genomes | rs876657693 |
hgdp | rs876657693 |
ensembl | rs876657693 |
geneview | rs876657693 |
scholar | rs876657693 |
rs876657693 | |
pharmgkb | rs876657693 |
gwascentral | rs876657693 |
openSNP | rs876657693 |
23andMe | rs876657693 |
SNPshot | rs876657693 |
SNPdbe | rs876657693 |
MSV3d | rs876657693 |
GWAS Ctlg | rs876657693 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876657693(-;-) |
Alt | rs876657693(-;-) |
Reference | Rs876657693(CCCAACACTGT;CCCAACACTGT) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | GJB2 |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 1 |
HGVS | NC_000013.10:g.20763188_20763198delACAGTGTTGGG |
CLNSRC | |
CLNACC | RCV000213910.1, |