rs121965079
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121965079(C;T) |
Make rs121965079(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 77156069 |
Gene | MYO7A |
is a | snp |
is | mentioned by |
dbSNP | rs121965079 |
dbSNP (classic) | rs121965079 |
ClinGen | rs121965079 |
ebi | rs121965079 |
HLI | rs121965079 |
Exac | rs121965079 |
Gnomad | rs121965079 |
Varsome | rs121965079 |
LitVar | rs121965079 |
Map | rs121965079 |
PheGenI | rs121965079 |
Biobank | rs121965079 |
1000 genomes | rs121965079 |
hgdp | rs121965079 |
ensembl | rs121965079 |
geneview | rs121965079 |
scholar | rs121965079 |
rs121965079 | |
pharmgkb | rs121965079 |
gwascentral | rs121965079 |
openSNP | rs121965079 |
23andMe | rs121965079 |
SNPshot | rs121965079 |
SNPdbe | rs121965079 |
MSV3d | rs121965079 |
GWAS Ctlg | rs121965079 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121965079(A;A) rs121965079(T;T) |
Alt | rs121965079(A;A) rs121965079(T;T) |
Reference | Rs121965079(C;C) |
Significance | Pathogenic |
Disease | not specified not provided Usher syndrome Usher syndrome |
Variation | info |
Gene | MYO7A |
CLNDBN | not specified not provided Usher syndrome, type 1B Usher syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.76867115C>A; NC_000011.9:g.76867115C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000155223.2, RCV000487904.1, RCV000012621.25, RCV000036148.2, |