rs121908934
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121908934(C;C) |
Make rs121908934(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 30889673 |
Gene | COCH, LOC100506071 |
is a | snp |
is | mentioned by |
dbSNP | rs121908934 |
dbSNP (classic) | rs121908934 |
ClinGen | rs121908934 |
ebi | rs121908934 |
HLI | rs121908934 |
Exac | rs121908934 |
Gnomad | rs121908934 |
Varsome | rs121908934 |
LitVar | rs121908934 |
Map | rs121908934 |
PheGenI | rs121908934 |
Biobank | rs121908934 |
1000 genomes | rs121908934 |
hgdp | rs121908934 |
ensembl | rs121908934 |
geneview | rs121908934 |
scholar | rs121908934 |
rs121908934 | |
pharmgkb | rs121908934 |
gwascentral | rs121908934 |
openSNP | rs121908934 |
23andMe | rs121908934 |
SNPshot | rs121908934 |
SNPdbe | rs121908934 |
MSV3d | rs121908934 |
GWAS Ctlg | rs121908934 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908934(C;C) |
Alt | rs121908934(C;C) |
Reference | Rs121908934(T;T) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | COCH LOC100506071 |
CLNDBN | Deafness, autosomal dominant 9 |
Reversed | 0 |
HGVS | NC_000014.8:g.31358879T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006995.2, |