rs121908932
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908932(G;T) |
Make rs121908932(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 30889763 |
Gene | COCH, LOC100506071 |
is a | snp |
is | mentioned by |
dbSNP | rs121908932 |
dbSNP (classic) | rs121908932 |
ClinGen | rs121908932 |
ebi | rs121908932 |
HLI | rs121908932 |
Exac | rs121908932 |
Gnomad | rs121908932 |
Varsome | rs121908932 |
LitVar | rs121908932 |
Map | rs121908932 |
PheGenI | rs121908932 |
Biobank | rs121908932 |
1000 genomes | rs121908932 |
hgdp | rs121908932 |
ensembl | rs121908932 |
geneview | rs121908932 |
scholar | rs121908932 |
rs121908932 | |
pharmgkb | rs121908932 |
gwascentral | rs121908932 |
openSNP | rs121908932 |
23andMe | rs121908932 |
SNPshot | rs121908932 |
SNPdbe | rs121908932 |
MSV3d | rs121908932 |
GWAS Ctlg | rs121908932 |
Merged from | Rs121908933 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908932(A;A) rs121908932(T;T) |
Alt | rs121908932(A;A) rs121908932(T;T) |
Reference | Rs121908932(G;G) |
Significance | Other |
Disease | Deafness Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | COCH LOC100506071 |
CLNDBN | Deafness, autosomal dominant 9 Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000014.8:g.31358969G>A; NC_000014.8:g.31358969G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006994.2, RCV000006993.3, RCV000214849.1, |