rs587777666
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs587777666(G;G) |
Make rs587777666(G;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 68231542 |
Gene | ATOH7 |
is a | snp |
is | mentioned by |
dbSNP | rs587777666 |
dbSNP (classic) | rs587777666 |
ClinGen | rs587777666 |
ebi | rs587777666 |
HLI | rs587777666 |
Exac | rs587777666 |
Gnomad | rs587777666 |
Varsome | rs587777666 |
LitVar | rs587777666 |
Map | rs587777666 |
PheGenI | rs587777666 |
Biobank | rs587777666 |
1000 genomes | rs587777666 |
hgdp | rs587777666 |
ensembl | rs587777666 |
geneview | rs587777666 |
scholar | rs587777666 |
rs587777666 | |
pharmgkb | rs587777666 |
gwascentral | rs587777666 |
openSNP | rs587777666 |
23andMe | rs587777666 |
SNPshot | rs587777666 |
SNPdbe | rs587777666 |
MSV3d | rs587777666 |
GWAS Ctlg | rs587777666 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777666(G;G) Rs587777666(T;T) |
Alt | rs587777666(G;G) Rs587777666(T;T) |
Reference | Rs587777666(A;A) |
Significance | Pathogenic |
Disease | Persistent hyperplastic primary vitreous |
Variation | info |
Gene | ATOH7 |
CLNDBN | Persistent hyperplastic primary vitreous, autosomal recessive |
Reversed | 1 |
HGVS | NC_000010.10:g.69991299T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000133579.3, |