rs780320724
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs780320724(A;A) |
Make rs780320724(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 20223362 |
Gene | GJB6 |
is a | snp |
is | mentioned by |
dbSNP | rs780320724 |
dbSNP (classic) | rs780320724 |
ClinGen | rs780320724 |
ebi | rs780320724 |
HLI | rs780320724 |
Exac | rs780320724 |
Gnomad | rs780320724 |
Varsome | rs780320724 |
LitVar | rs780320724 |
Map | rs780320724 |
PheGenI | rs780320724 |
Biobank | rs780320724 |
1000 genomes | rs780320724 |
hgdp | rs780320724 |
ensembl | rs780320724 |
geneview | rs780320724 |
scholar | rs780320724 |
rs780320724 | |
pharmgkb | rs780320724 |
gwascentral | rs780320724 |
openSNP | rs780320724 |
23andMe | rs780320724 |
SNPshot | rs780320724 |
SNPdbe | rs780320724 |
MSV3d | rs780320724 |
GWAS Ctlg | rs780320724 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780320724(A;A) |
Alt | rs780320724(A;A) |
Reference | Rs780320724(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | GJB6 |
CLNDBN | Deafness, autosomal dominant 3b |
Reversed | 0 |
HGVS | NC_000013.10:g.20797501G>A |
CLNSRC | |
CLNACC | RCV000487477.1, |