rs753896285
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs753896285(A;A) |
Make rs753896285(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 121130157 |
Gene | TECTA |
is a | snp |
is | mentioned by |
dbSNP | rs753896285 |
dbSNP (classic) | rs753896285 |
ClinGen | rs753896285 |
ebi | rs753896285 |
HLI | rs753896285 |
Exac | rs753896285 |
Gnomad | rs753896285 |
Varsome | rs753896285 |
LitVar | rs753896285 |
Map | rs753896285 |
PheGenI | rs753896285 |
Biobank | rs753896285 |
1000 genomes | rs753896285 |
hgdp | rs753896285 |
ensembl | rs753896285 |
geneview | rs753896285 |
scholar | rs753896285 |
rs753896285 | |
pharmgkb | rs753896285 |
gwascentral | rs753896285 |
openSNP | rs753896285 |
23andMe | rs753896285 |
SNPshot | rs753896285 |
SNPdbe | rs753896285 |
MSV3d | rs753896285 |
GWAS Ctlg | rs753896285 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs753896285(A;A) |
Alt | rs753896285(A;A) |
Reference | Rs753896285(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | TECTA |
CLNDBN | Deafness, autosomal dominant 12 |
Reversed | 0 |
HGVS | NC_000011.9:g.121000866G>A |
CLNSRC | |
CLNACC | RCV000225094.1, |