rs876661337
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs876661337(A;A) |
Make rs876661337(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 71223838 |
Gene | GJB1 |
is a | snp |
is | mentioned by |
dbSNP | rs876661337 |
dbSNP (classic) | rs876661337 |
ClinGen | rs876661337 |
ebi | rs876661337 |
HLI | rs876661337 |
Exac | rs876661337 |
Gnomad | rs876661337 |
Varsome | rs876661337 |
LitVar | rs876661337 |
Map | rs876661337 |
PheGenI | rs876661337 |
Biobank | rs876661337 |
1000 genomes | rs876661337 |
hgdp | rs876661337 |
ensembl | rs876661337 |
geneview | rs876661337 |
scholar | rs876661337 |
rs876661337 | |
pharmgkb | rs876661337 |
gwascentral | rs876661337 |
openSNP | rs876661337 |
23andMe | rs876661337 |
SNPshot | rs876661337 |
SNPdbe | rs876661337 |
MSV3d | rs876661337 |
GWAS Ctlg | rs876661337 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876661337(A;A) |
Alt | rs876661337(A;A) |
Reference | Rs876661337(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | GJB1 |
CLNDBN | Deafness, autosomal recessive 1A |
Reversed | 0 |
HGVS | NC_000023.10:g.70443688G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000223674.2, |