rs876657729
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a DFNB7/11 deafness mutation |
(G;G) | 0 | common in clinvar |
Make rs876657729(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 72805492 |
Gene | TMC1 |
is a | snp |
is | mentioned by |
dbSNP | rs876657729 |
dbSNP (classic) | rs876657729 |
ClinGen | rs876657729 |
ebi | rs876657729 |
HLI | rs876657729 |
Exac | rs876657729 |
Gnomad | rs876657729 |
Varsome | rs876657729 |
LitVar | rs876657729 |
Map | rs876657729 |
PheGenI | rs876657729 |
Biobank | rs876657729 |
1000 genomes | rs876657729 |
hgdp | rs876657729 |
ensembl | rs876657729 |
geneview | rs876657729 |
scholar | rs876657729 |
rs876657729 | |
pharmgkb | rs876657729 |
gwascentral | rs876657729 |
openSNP | rs876657729 |
23andMe | rs876657729 |
SNPshot | rs876657729 |
SNPdbe | rs876657729 |
MSV3d | rs876657729 |
GWAS Ctlg | rs876657729 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs876657729(A;A) |
Alt | rs876657729(A;A) |
Reference | Rs876657729(G;G) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | TMC1 |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000009.11:g.75420408G>A |
CLNSRC | |
CLNACC | RCV000214242.1, |