rs137933052
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137933052(C;T) |
Make rs137933052(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 115041016 |
Gene | TNC |
is a | snp |
is | mentioned by |
dbSNP | rs137933052 |
dbSNP (classic) | rs137933052 |
ClinGen | rs137933052 |
ebi | rs137933052 |
HLI | rs137933052 |
Exac | rs137933052 |
Gnomad | rs137933052 |
Varsome | rs137933052 |
LitVar | rs137933052 |
Map | rs137933052 |
PheGenI | rs137933052 |
Biobank | rs137933052 |
1000 genomes | rs137933052 |
hgdp | rs137933052 |
ensembl | rs137933052 |
geneview | rs137933052 |
scholar | rs137933052 |
rs137933052 | |
pharmgkb | rs137933052 |
gwascentral | rs137933052 |
openSNP | rs137933052 |
23andMe | rs137933052 |
SNPshot | rs137933052 |
SNPdbe | rs137933052 |
MSV3d | rs137933052 |
GWAS Ctlg | rs137933052 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137933052(T;T) |
Alt | rs137933052(T;T) |
Reference | Rs137933052(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | TNC |
CLNDBN | Deafness, autosomal dominant 56 |
Reversed | 0 |
HGVS | NC_000009.11:g.117803295C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000083259.2, |