rs431905513
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs431905513(A;T) |
Make rs431905513(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 115040947 |
Gene | TNC |
is a | snp |
is | mentioned by |
dbSNP | rs431905513 |
dbSNP (classic) | rs431905513 |
ClinGen | rs431905513 |
ebi | rs431905513 |
HLI | rs431905513 |
Exac | rs431905513 |
Gnomad | rs431905513 |
Varsome | rs431905513 |
LitVar | rs431905513 |
Map | rs431905513 |
PheGenI | rs431905513 |
Biobank | rs431905513 |
1000 genomes | rs431905513 |
hgdp | rs431905513 |
ensembl | rs431905513 |
geneview | rs431905513 |
scholar | rs431905513 |
rs431905513 | |
pharmgkb | rs431905513 |
gwascentral | rs431905513 |
openSNP | rs431905513 |
23andMe | rs431905513 |
SNPshot | rs431905513 |
SNPdbe | rs431905513 |
MSV3d | rs431905513 |
GWAS Ctlg | rs431905513 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs431905513(T;T) |
Alt | rs431905513(T;T) |
Reference | Rs431905513(A;A) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | TNC |
CLNDBN | Deafness, autosomal dominant 56 |
Reversed | 1 |
HGVS | NC_000009.11:g.117803226T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000083260.2, |