rs372710475
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a DFNB7/11 deafness mutation |
Make rs372710475(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 72791994 |
Gene | TMC1 |
is a | snp |
is | mentioned by |
dbSNP | rs372710475 |
dbSNP (classic) | rs372710475 |
ClinGen | rs372710475 |
ebi | rs372710475 |
HLI | rs372710475 |
Exac | rs372710475 |
Gnomad | rs372710475 |
Varsome | rs372710475 |
LitVar | rs372710475 |
Map | rs372710475 |
PheGenI | rs372710475 |
Biobank | rs372710475 |
1000 genomes | rs372710475 |
hgdp | rs372710475 |
ensembl | rs372710475 |
geneview | rs372710475 |
scholar | rs372710475 |
rs372710475 | |
pharmgkb | rs372710475 |
gwascentral | rs372710475 |
openSNP | rs372710475 |
23andMe | rs372710475 |
SNPshot | rs372710475 |
SNPdbe | rs372710475 |
MSV3d | rs372710475 |
GWAS Ctlg | rs372710475 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs372710475(T;T) |
Alt | rs372710475(T;T) |
Reference | Rs372710475(C;C) |
Significance | Probable-Pathogenic |
Disease | Nonsyndromic hearing loss and deafness not specified |
Variation | info |
Gene | TMC1 |
CLNDBN | Nonsyndromic hearing loss and deafness not specified |
Reversed | 0 |
HGVS | NC_000009.11:g.75406910C>T |
CLNSRC | |
CLNACC | RCV000155854.1, RCV000407406.1, |