rs74315488
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs74315488(G;T) |
Make rs74315488(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 26599591 |
Gene | CRYBB1 |
is a | snp |
is | mentioned by |
dbSNP | rs74315488 |
dbSNP (classic) | rs74315488 |
ClinGen | rs74315488 |
ebi | rs74315488 |
HLI | rs74315488 |
Exac | rs74315488 |
Gnomad | rs74315488 |
Varsome | rs74315488 |
LitVar | rs74315488 |
Map | rs74315488 |
PheGenI | rs74315488 |
Biobank | rs74315488 |
1000 genomes | rs74315488 |
hgdp | rs74315488 |
ensembl | rs74315488 |
geneview | rs74315488 |
scholar | rs74315488 |
rs74315488 | |
pharmgkb | rs74315488 |
gwascentral | rs74315488 |
openSNP | rs74315488 |
23andMe | rs74315488 |
SNPshot | rs74315488 |
SNPdbe | rs74315488 |
MSV3d | rs74315488 |
GWAS Ctlg | rs74315488 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315488(T;T) |
Alt | rs74315488(T;T) |
Reference | Rs74315488(G;G) |
Significance | Pathogenic |
Disease | Cataract |
Variation | info |
Gene | CRYBB1 |
CLNDBN | Cataract, congenital nuclear, autosomal recessive 3 |
Reversed | 1 |
HGVS | NC_000022.10:g.26995555C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009224.3, |