rs797044518
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs797044518(A;G) |
Make rs797044518(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 77130635 |
Gene | MYO7A |
is a | snp |
is | mentioned by |
dbSNP | rs797044518 |
dbSNP (classic) | rs797044518 |
ClinGen | rs797044518 |
ebi | rs797044518 |
HLI | rs797044518 |
Exac | rs797044518 |
Gnomad | rs797044518 |
Varsome | rs797044518 |
LitVar | rs797044518 |
Map | rs797044518 |
PheGenI | rs797044518 |
Biobank | rs797044518 |
1000 genomes | rs797044518 |
hgdp | rs797044518 |
ensembl | rs797044518 |
geneview | rs797044518 |
scholar | rs797044518 |
rs797044518 | |
pharmgkb | rs797044518 |
gwascentral | rs797044518 |
openSNP | rs797044518 |
23andMe | rs797044518 |
SNPshot | rs797044518 |
SNPdbe | rs797044518 |
MSV3d | rs797044518 |
GWAS Ctlg | rs797044518 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044518(G;G) |
Alt | rs797044518(G;G) |
Reference | Rs797044518(A;A) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome |
Variation | info |
Gene | MYO7A |
CLNDBN | Usher syndrome, type 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.76841681A>G |
CLNSRC | |
CLNACC | RCV000156361.1, |