rs111033347
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs111033347(-;-) |
Make rs111033347(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 77190710 |
Gene | MYO7A |
is a | snp |
is | mentioned by |
dbSNP | rs111033347 |
dbSNP (classic) | rs111033347 |
ClinGen | rs111033347 |
ebi | rs111033347 |
HLI | rs111033347 |
Exac | rs111033347 |
Gnomad | rs111033347 |
Varsome | rs111033347 |
LitVar | rs111033347 |
Map | rs111033347 |
PheGenI | rs111033347 |
Biobank | rs111033347 |
1000 genomes | rs111033347 |
hgdp | rs111033347 |
ensembl | rs111033347 |
geneview | rs111033347 |
scholar | rs111033347 |
rs111033347 | |
pharmgkb | rs111033347 |
gwascentral | rs111033347 |
openSNP | rs111033347 |
23andMe | rs111033347 |
SNPshot | rs111033347 |
SNPdbe | rs111033347 |
MSV3d | rs111033347 |
GWAS Ctlg | rs111033347 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033347(-;-) |
Alt | rs111033347(-;-) |
Reference | Rs111033347(A;A) |
Significance | Other |
Disease | Usher syndrome Deafness |
Variation | info |
Gene | MYO7A |
CLNDBN | Usher syndrome, type 1 Deafness, autosomal recessive 2 |
Reversed | 0 |
HGVS | NC_000011.9:g.76901755delA |
CLNSRC | ClinVar |
CLNACC | RCV000036127.2, RCV000412422.1, |
[PMID 17361009] MYO7A mutation screening in Usher syndrome type I patients from diverse origins.