rs397516284
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397516284(A;A) |
Make rs397516284(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 77142827 |
Gene | MYO7A |
is a | snp |
is | mentioned by |
dbSNP | rs397516284 |
dbSNP (classic) | rs397516284 |
ClinGen | rs397516284 |
ebi | rs397516284 |
HLI | rs397516284 |
Exac | rs397516284 |
Gnomad | rs397516284 |
Varsome | rs397516284 |
LitVar | rs397516284 |
Map | rs397516284 |
PheGenI | rs397516284 |
Biobank | rs397516284 |
1000 genomes | rs397516284 |
hgdp | rs397516284 |
ensembl | rs397516284 |
geneview | rs397516284 |
scholar | rs397516284 |
rs397516284 | |
pharmgkb | rs397516284 |
gwascentral | rs397516284 |
openSNP | rs397516284 |
23andMe | rs397516284 |
SNPshot | rs397516284 |
SNPdbe | rs397516284 |
MSV3d | rs397516284 |
GWAS Ctlg | rs397516284 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516284(A;A) |
Alt | rs397516284(A;A) |
Reference | Rs397516284(G;G) |
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.76853873G>A |
CLNSRC | ClinVar |
CLNACC | RCV000036044.2, RCV000225545.1, |