rs74315320
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs74315320(A;G) |
Make rs74315320(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 34785183 |
Gene | GJB3, LOC105378642 |
is a | snp |
is | mentioned by |
dbSNP | rs74315320 |
dbSNP (classic) | rs74315320 |
ClinGen | rs74315320 |
ebi | rs74315320 |
HLI | rs74315320 |
Exac | rs74315320 |
Gnomad | rs74315320 |
Varsome | rs74315320 |
LitVar | rs74315320 |
Map | rs74315320 |
PheGenI | rs74315320 |
Biobank | rs74315320 |
1000 genomes | rs74315320 |
hgdp | rs74315320 |
ensembl | rs74315320 |
geneview | rs74315320 |
scholar | rs74315320 |
rs74315320 | |
pharmgkb | rs74315320 |
gwascentral | rs74315320 |
openSNP | rs74315320 |
23andMe | rs74315320 |
SNPshot | rs74315320 |
SNPdbe | rs74315320 |
MSV3d | rs74315320 |
GWAS Ctlg | rs74315320 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315320(G;G) |
Alt | rs74315320(G;G) |
Reference | Rs74315320(A;A) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | GJB3 |
CLNDBN | Deafness, autosomal recessive |
Reversed | 0 |
HGVS | NC_000001.10:g.35250784A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006861.4, |