rs111033201
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs111033201(C;T) |
Make rs111033201(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 77174825 |
Gene | MYO7A |
is a | snp |
is | mentioned by |
dbSNP | rs111033201 |
dbSNP (classic) | rs111033201 |
ClinGen | rs111033201 |
ebi | rs111033201 |
HLI | rs111033201 |
Exac | rs111033201 |
Gnomad | rs111033201 |
Varsome | rs111033201 |
LitVar | rs111033201 |
Map | rs111033201 |
PheGenI | rs111033201 |
Biobank | rs111033201 |
1000 genomes | rs111033201 |
hgdp | rs111033201 |
ensembl | rs111033201 |
geneview | rs111033201 |
scholar | rs111033201 |
rs111033201 | |
pharmgkb | rs111033201 |
gwascentral | rs111033201 |
openSNP | rs111033201 |
23andMe | rs111033201 |
SNPshot | rs111033201 |
SNPdbe | rs111033201 |
MSV3d | rs111033201 |
GWAS Ctlg | rs111033201 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033201(A;A) rs111033201(G;G) rs111033201(T;T) |
Alt | rs111033201(A;A) rs111033201(G;G) rs111033201(T;T) |
Reference | Rs111033201(C;C) |
Significance | Other |
Disease | Usher syndrome Deafness not provided |
Variation | info |
Gene | MYO7A |
CLNDBN | Usher syndrome, type 1 Deafness, autosomal recessive 2 not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.76885871C>T |
CLNSRC | ClinVar |
CLNACC | RCV000036073.2, RCV000409801.1, RCV000443077.1, |
[PMID 9718356] Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.