rs367924428
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 rs367924428(A;A) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 9 |
Position | 72789207 |
Gene | TMC1 |
is a | snp |
is | mentioned by |
dbSNP | rs367924428 |
dbSNP (classic) | rs367924428 |
ClinGen | rs367924428 |
ebi | rs367924428 |
HLI | rs367924428 |
Exac | rs367924428 |
Gnomad | rs367924428 |
Varsome | rs367924428 |
LitVar | rs367924428 |
Map | rs367924428 |
PheGenI | rs367924428 |
Biobank | rs367924428 |
1000 genomes | rs367924428 |
hgdp | rs367924428 |
ensembl | rs367924428 |
geneview | rs367924428 |
scholar | rs367924428 |
rs367924428 | |
pharmgkb | rs367924428 |
gwascentral | rs367924428 |
openSNP | rs367924428 |
23andMe | rs367924428 |
SNPshot | rs367924428 |
SNPdbe | rs367924428 |
MSV3d | rs367924428 |
GWAS Ctlg | rs367924428 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs367924428(A;A) |
Alt | rs367924428(A;A) |
Reference | Rs367924428(G;G) |
Significance | Probable-Pathogenic |
Disease | Deafness |
Variation | info |
Gene | TMC1 |
CLNDBN | Deafness, autosomal recessive 7 |
Reversed | 0 |
HGVS | NC_000009.11:g.75404123G>A |
CLNSRC | |
CLNACC | RCV000268431.1, |