rs773528125
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;CGTT) | 3 | Carrier of a recessive deafness mutation |
(D;D) | 0 | common genotype |
Make rs773528125(CGTT;CGTT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 20189070 |
Gene | GJB2 |
is a | snp |
is | mentioned by |
dbSNP | rs773528125 |
dbSNP (classic) | rs773528125 |
ClinGen | rs773528125 |
ebi | rs773528125 |
HLI | rs773528125 |
Exac | rs773528125 |
Gnomad | rs773528125 |
Varsome | rs773528125 |
LitVar | rs773528125 |
Map | rs773528125 |
PheGenI | rs773528125 |
Biobank | rs773528125 |
1000 genomes | rs773528125 |
hgdp | rs773528125 |
ensembl | rs773528125 |
geneview | rs773528125 |
scholar | rs773528125 |
rs773528125 | |
pharmgkb | rs773528125 |
gwascentral | rs773528125 |
openSNP | rs773528125 |
23andMe | rs773528125 |
SNPshot | rs773528125 |
SNPdbe | rs773528125 |
MSV3d | rs773528125 |
GWAS Ctlg | rs773528125 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs773528125(CGTT;CGTT) |
Alt | rs773528125(CGTT;CGTT) |
Reference | Rs773528125(-;-) |
Significance | Other |
Disease | Deafness |
Variation | info |
Gene | GJB2 |
CLNDBN | Deafness, autosomal recessive 1A |
Reversed | 0 |
HGVS | NC_000013.10:g.20763210_20763213dupCGTT |
CLNSRC | |
CLNACC | RCV000169473.3, |