rs151001642
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 rs151001642(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 72789258 |
Gene | TMC1 |
is a | snp |
is | mentioned by |
dbSNP | rs151001642 |
dbSNP (classic) | rs151001642 |
ClinGen | rs151001642 |
ebi | rs151001642 |
HLI | rs151001642 |
Exac | rs151001642 |
Gnomad | rs151001642 |
Varsome | rs151001642 |
LitVar | rs151001642 |
Map | rs151001642 |
PheGenI | rs151001642 |
Biobank | rs151001642 |
1000 genomes | rs151001642 |
hgdp | rs151001642 |
ensembl | rs151001642 |
geneview | rs151001642 |
scholar | rs151001642 |
rs151001642 | |
pharmgkb | rs151001642 |
gwascentral | rs151001642 |
openSNP | rs151001642 |
23andMe | rs151001642 |
SNPshot | rs151001642 |
SNPdbe | rs151001642 |
MSV3d | rs151001642 |
GWAS Ctlg | rs151001642 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs151001642(T;T) |
Alt | rs151001642(T;T) |
Reference | Rs151001642(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.75404174C>T |
CLNSRC | ClinVar |
CLNACC | RCV000041126.2, RCV000225055.1, |