rs281865415
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs281865415(C;T) |
Make rs281865415(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 121166652 |
Gene | TECTA |
is a | snp |
is | mentioned by |
dbSNP | rs281865415 |
dbSNP (classic) | rs281865415 |
ClinGen | rs281865415 |
ebi | rs281865415 |
HLI | rs281865415 |
Exac | rs281865415 |
Gnomad | rs281865415 |
Varsome | rs281865415 |
LitVar | rs281865415 |
Map | rs281865415 |
PheGenI | rs281865415 |
Biobank | rs281865415 |
1000 genomes | rs281865415 |
hgdp | rs281865415 |
ensembl | rs281865415 |
geneview | rs281865415 |
scholar | rs281865415 |
rs281865415 | |
pharmgkb | rs281865415 |
gwascentral | rs281865415 |
openSNP | rs281865415 |
23andMe | rs281865415 |
SNPshot | rs281865415 |
SNPdbe | rs281865415 |
MSV3d | rs281865415 |
GWAS Ctlg | rs281865415 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865415(T;T) |
Alt | rs281865415(T;T) |
Reference | Rs281865415(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | TECTA |
CLNDBN | Deafness, autosomal dominant 12 |
Reversed | 0 |
HGVS | NC_000011.9:g.121037361C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007428.2, |