rs878853230
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 3 | Carrier of a DFNB7/11 deafness mutation |
(A;A) | 0 | common in clinvar |
Make rs878853230(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 72694707 |
Gene | TMC1 |
is a | snp |
is | mentioned by |
dbSNP | rs878853230 |
dbSNP (classic) | rs878853230 |
ClinGen | rs878853230 |
ebi | rs878853230 |
HLI | rs878853230 |
Exac | rs878853230 |
Gnomad | rs878853230 |
Varsome | rs878853230 |
LitVar | rs878853230 |
Map | rs878853230 |
PheGenI | rs878853230 |
Biobank | rs878853230 |
1000 genomes | rs878853230 |
hgdp | rs878853230 |
ensembl | rs878853230 |
geneview | rs878853230 |
scholar | rs878853230 |
rs878853230 | |
pharmgkb | rs878853230 |
gwascentral | rs878853230 |
openSNP | rs878853230 |
23andMe | rs878853230 |
SNPshot | rs878853230 |
SNPdbe | rs878853230 |
MSV3d | rs878853230 |
GWAS Ctlg | rs878853230 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs878853230(-;-) |
Alt | rs878853230(-;-) |
Reference | Rs878853230(A;A) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | TMC1 |
CLNDBN | Deafness, autosomal recessive 7 |
Reversed | 0 |
HGVS | NC_000009.11:g.75309623delA |
CLNSRC | |
CLNACC | RCV000225099.1, |