rs370088722
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs370088722(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 72754817 |
Gene | TMC1 |
is a | snp |
is | mentioned by |
dbSNP | rs370088722 |
dbSNP (classic) | rs370088722 |
ClinGen | rs370088722 |
ebi | rs370088722 |
HLI | rs370088722 |
Exac | rs370088722 |
Gnomad | rs370088722 |
Varsome | rs370088722 |
LitVar | rs370088722 |
Map | rs370088722 |
PheGenI | rs370088722 |
Biobank | rs370088722 |
1000 genomes | rs370088722 |
hgdp | rs370088722 |
ensembl | rs370088722 |
geneview | rs370088722 |
scholar | rs370088722 |
rs370088722 | |
pharmgkb | rs370088722 |
gwascentral | rs370088722 |
openSNP | rs370088722 |
23andMe | rs370088722 |
SNPshot | rs370088722 |
SNPdbe | rs370088722 |
MSV3d | rs370088722 |
GWAS Ctlg | rs370088722 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370088722(T;T) |
Alt | rs370088722(T;T) |
Reference | Rs370088722(C;C) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness Deafness |
Variation | info |
Gene | TMC1 |
CLNDBN | Nonsyndromic hearing loss and deafness Deafness, autosomal recessive 7 |
Reversed | 0 |
HGVS | NC_000009.11:g.75369733C>T |
CLNSRC | ClinVar |
CLNACC | RCV000041146.3, RCV000225031.1, |