rs74315487
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs74315487(C;C) |
Make rs74315487(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 26625528 |
Gene | CRYBA4 |
is a | snp |
is | mentioned by |
dbSNP | rs74315487 |
dbSNP (classic) | rs74315487 |
ClinGen | rs74315487 |
ebi | rs74315487 |
HLI | rs74315487 |
Exac | rs74315487 |
Gnomad | rs74315487 |
Varsome | rs74315487 |
LitVar | rs74315487 |
Map | rs74315487 |
PheGenI | rs74315487 |
Biobank | rs74315487 |
1000 genomes | rs74315487 |
hgdp | rs74315487 |
ensembl | rs74315487 |
geneview | rs74315487 |
scholar | rs74315487 |
rs74315487 | |
pharmgkb | rs74315487 |
gwascentral | rs74315487 |
openSNP | rs74315487 |
23andMe | rs74315487 |
SNPshot | rs74315487 |
SNPdbe | rs74315487 |
MSV3d | rs74315487 |
GWAS Ctlg | rs74315487 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315487(C;C) |
Alt | rs74315487(C;C) |
Reference | Rs74315487(T;T) |
Significance | Pathogenic |
Disease | Cataract 23 |
Variation | info |
Gene | CRYBA4 |
CLNDBN | Cataract 23, multiple types |
Reversed | 0 |
HGVS | NC_000022.10:g.27021492T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018456.24, |