rs28934610
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28934610(A;A) |
Make rs28934610(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 77156904 |
Gene | MYO7A |
is a | snp |
is | mentioned by |
dbSNP | rs28934610 |
dbSNP (classic) | rs28934610 |
ClinGen | rs28934610 |
ebi | rs28934610 |
HLI | rs28934610 |
Exac | rs28934610 |
Gnomad | rs28934610 |
Varsome | rs28934610 |
LitVar | rs28934610 |
Map | rs28934610 |
PheGenI | rs28934610 |
Biobank | rs28934610 |
1000 genomes | rs28934610 |
hgdp | rs28934610 |
ensembl | rs28934610 |
geneview | rs28934610 |
scholar | rs28934610 |
rs28934610 | |
pharmgkb | rs28934610 |
gwascentral | rs28934610 |
openSNP | rs28934610 |
23andMe | rs28934610 |
SNPshot | rs28934610 |
SNPdbe | rs28934610 |
MSV3d | rs28934610 |
GWAS Ctlg | rs28934610 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28934610(A;A) |
Alt | rs28934610(A;A) |
Reference | Rs28934610(G;G) |
Significance | Pathogenic |
Disease | Usher syndrome Usher syndrome |
Variation | info |
Gene | MYO7A |
CLNDBN | Usher syndrome, type 1B Usher syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.76867950G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012624.25, RCV000036232.2, |