rs869312181
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs869312181(G;G) |
Make rs869312181(G;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 77192241 |
Gene | MYO7A |
is a | snp |
is | mentioned by |
dbSNP | rs869312181 |
dbSNP (classic) | rs869312181 |
ClinGen | rs869312181 |
ebi | rs869312181 |
HLI | rs869312181 |
Exac | rs869312181 |
Gnomad | rs869312181 |
Varsome | rs869312181 |
LitVar | rs869312181 |
Map | rs869312181 |
PheGenI | rs869312181 |
Biobank | rs869312181 |
1000 genomes | rs869312181 |
hgdp | rs869312181 |
ensembl | rs869312181 |
geneview | rs869312181 |
scholar | rs869312181 |
rs869312181 | |
pharmgkb | rs869312181 |
gwascentral | rs869312181 |
openSNP | rs869312181 |
23andMe | rs869312181 |
SNPshot | rs869312181 |
SNPdbe | rs869312181 |
MSV3d | rs869312181 |
GWAS Ctlg | rs869312181 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312181(G;G) |
Alt | rs869312181(G;G) |
Reference | Rs869312181(T;T) |
Significance | Probable-Pathogenic |
Disease | Usher syndrome Retinal dystrophy |
Variation | info |
Gene | MYO7A |
CLNDBN | Usher syndrome, type 1 Retinal dystrophy |
Reversed | 0 |
HGVS | NC_000011.9:g.76903286T>G |
CLNSRC | |
CLNACC | RCV000210299.1, RCV000225646.1, |