rs777777359
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 rs777777359(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 72820888 |
Gene | TMC1 |
is a | snp |
is | mentioned by |
dbSNP | rs777777359 |
dbSNP (classic) | rs777777359 |
ClinGen | rs777777359 |
ebi | rs777777359 |
HLI | rs777777359 |
Exac | rs777777359 |
Gnomad | rs777777359 |
Varsome | rs777777359 |
LitVar | rs777777359 |
Map | rs777777359 |
PheGenI | rs777777359 |
Biobank | rs777777359 |
1000 genomes | rs777777359 |
hgdp | rs777777359 |
ensembl | rs777777359 |
geneview | rs777777359 |
scholar | rs777777359 |
rs777777359 | |
pharmgkb | rs777777359 |
gwascentral | rs777777359 |
openSNP | rs777777359 |
23andMe | rs777777359 |
SNPshot | rs777777359 |
SNPdbe | rs777777359 |
MSV3d | rs777777359 |
GWAS Ctlg | rs777777359 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs777777359(T;T) |
Alt | rs777777359(T;T) |
Reference | Rs777777359(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | TMC1 |
CLNDBN | Deafness, autosomal recessive 7 |
Reversed | 0 |
HGVS | NC_000009.11:g.75435804C>T |
CLNSRC | |
CLNACC | RCV000225031.1, RCV000225097.1, |