rs766413410
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs766413410(C;T) |
Make rs766413410(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 141615468 |
Gene | AGK |
is a | snp |
is | mentioned by |
dbSNP | rs766413410 |
dbSNP (classic) | rs766413410 |
ClinGen | rs766413410 |
ebi | rs766413410 |
HLI | rs766413410 |
Exac | rs766413410 |
Gnomad | rs766413410 |
Varsome | rs766413410 |
LitVar | rs766413410 |
Map | rs766413410 |
PheGenI | rs766413410 |
Biobank | rs766413410 |
1000 genomes | rs766413410 |
hgdp | rs766413410 |
ensembl | rs766413410 |
geneview | rs766413410 |
scholar | rs766413410 |
rs766413410 | |
pharmgkb | rs766413410 |
gwascentral | rs766413410 |
openSNP | rs766413410 |
23andMe | rs766413410 |
SNPshot | rs766413410 |
SNPdbe | rs766413410 |
MSV3d | rs766413410 |
GWAS Ctlg | rs766413410 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs766413410(A;A) rs766413410(G;G) rs766413410(T;T) |
Alt | rs766413410(A;A) rs766413410(G;G) rs766413410(T;T) |
Reference | Rs766413410(C;C) |
Significance | Pathogenic |
Disease | Cataract Cataract and cardiomyopathy |
Variation | info |
Gene | AGK |
CLNDBN | Cataract, autosomal recessive congenital 5 Cataract and cardiomyopathy |
Reversed | 0 |
HGVS | NC_000007.13:g.141315268C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024610.4, RCV000191058.1, |