rs770247378
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ATT;ATT) | 0 | common in clinvar |
Make rs770247378(-;-) |
Make rs770247378(-;ATT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 34785183 |
Gene | GJB3, LOC105378642 |
is a | snp |
is | mentioned by |
dbSNP | rs770247378 |
dbSNP (classic) | rs770247378 |
ClinGen | rs770247378 |
ebi | rs770247378 |
HLI | rs770247378 |
Exac | rs770247378 |
Gnomad | rs770247378 |
Varsome | rs770247378 |
LitVar | rs770247378 |
Map | rs770247378 |
PheGenI | rs770247378 |
Biobank | rs770247378 |
1000 genomes | rs770247378 |
hgdp | rs770247378 |
ensembl | rs770247378 |
geneview | rs770247378 |
scholar | rs770247378 |
rs770247378 | |
pharmgkb | rs770247378 |
gwascentral | rs770247378 |
openSNP | rs770247378 |
23andMe | rs770247378 |
SNPshot | rs770247378 |
SNPdbe | rs770247378 |
MSV3d | rs770247378 |
GWAS Ctlg | rs770247378 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770247378(-;-) |
Alt | rs770247378(-;-) |
Reference | Rs770247378(ATT;ATT) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | GJB3 |
CLNDBN | Deafness, autosomal recessive |
Reversed | 0 |
HGVS | NC_000001.10:g.35250784_35250786delATT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006860.4, |