rs786201027
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 5 | DFNA36 deafness (predicted) |
(T;T) | 0 | common in clinvar |
Make rs786201027(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 72791914 |
Gene | TMC1 |
is a | snp |
is | mentioned by |
dbSNP | rs786201027 |
dbSNP (classic) | rs786201027 |
ClinGen | rs786201027 |
ebi | rs786201027 |
HLI | rs786201027 |
Exac | rs786201027 |
Gnomad | rs786201027 |
Varsome | rs786201027 |
LitVar | rs786201027 |
Map | rs786201027 |
PheGenI | rs786201027 |
Biobank | rs786201027 |
1000 genomes | rs786201027 |
hgdp | rs786201027 |
ensembl | rs786201027 |
geneview | rs786201027 |
scholar | rs786201027 |
rs786201027 | |
pharmgkb | rs786201027 |
gwascentral | rs786201027 |
openSNP | rs786201027 |
23andMe | rs786201027 |
SNPshot | rs786201027 |
SNPdbe | rs786201027 |
MSV3d | rs786201027 |
GWAS Ctlg | rs786201027 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs786201027(A;A) |
Alt | rs786201027(A;A) |
Reference | Rs786201027(T;T) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | TMC1 |
CLNDBN | Deafness, autosomal dominant 36 |
Reversed | 0 |
HGVS | NC_000009.11:g.75406830T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000162325.2, |