rs121908076
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Carrier of a DFNB7/11 deafness mutation |
(T;T) | 0 | common in clinvar |
Make rs121908076(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 72792329 |
Gene | TMC1 |
is a | snp |
is | mentioned by |
dbSNP | rs121908076 |
dbSNP (classic) | rs121908076 |
ClinGen | rs121908076 |
ebi | rs121908076 |
HLI | rs121908076 |
Exac | rs121908076 |
Gnomad | rs121908076 |
Varsome | rs121908076 |
LitVar | rs121908076 |
Map | rs121908076 |
PheGenI | rs121908076 |
Biobank | rs121908076 |
1000 genomes | rs121908076 |
hgdp | rs121908076 |
ensembl | rs121908076 |
geneview | rs121908076 |
scholar | rs121908076 |
rs121908076 | |
pharmgkb | rs121908076 |
gwascentral | rs121908076 |
openSNP | rs121908076 |
23andMe | rs121908076 |
SNPshot | rs121908076 |
SNPdbe | rs121908076 |
MSV3d | rs121908076 |
GWAS Ctlg | rs121908076 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs121908076(C;C) |
Alt | rs121908076(C;C) |
Reference | Rs121908076(T;T) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | TMC1 |
CLNDBN | Deafness, autosomal recessive 7 |
Reversed | 0 |
HGVS | NC_000009.11:g.75407245T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004323.3, |