rs370898981
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | Carrier of a DFNB7/11 deafness mutation |
Make rs370898981(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 72816213 |
Gene | TMC1 |
is a | snp |
is | mentioned by |
dbSNP | rs370898981 |
dbSNP (classic) | rs370898981 |
ClinGen | rs370898981 |
ebi | rs370898981 |
HLI | rs370898981 |
Exac | rs370898981 |
Gnomad | rs370898981 |
Varsome | rs370898981 |
LitVar | rs370898981 |
Map | rs370898981 |
PheGenI | rs370898981 |
Biobank | rs370898981 |
1000 genomes | rs370898981 |
hgdp | rs370898981 |
ensembl | rs370898981 |
geneview | rs370898981 |
scholar | rs370898981 |
rs370898981 | |
pharmgkb | rs370898981 |
gwascentral | rs370898981 |
openSNP | rs370898981 |
23andMe | rs370898981 |
SNPshot | rs370898981 |
SNPdbe | rs370898981 |
MSV3d | rs370898981 |
GWAS Ctlg | rs370898981 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs370898981(G;G) |
Alt | rs370898981(G;G) |
Reference | Rs370898981(A;A) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness Nonsyndromic Hearing Loss not provided Nonsyndromic Hearing Loss |
Variation | info |
Gene | TMC1 |
CLNDBN | Nonsyndromic hearing loss and deafness Nonsyndromic Hearing Loss, Recessive not provided Nonsyndromic Hearing Loss, Dominant |
Reversed | 0 |
HGVS | NC_000009.11:g.75431129A>G |
CLNSRC | ClinVar |
CLNACC | RCV000041134.3, RCV000267791.1, RCV000293958.1, RCV000357976.1, |