rs74315489
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs74315489(C;T) |
Make rs74315489(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 25231617 |
Gene | CRYBB2 |
is a | snp |
is | mentioned by |
dbSNP | rs74315489 |
dbSNP (classic) | rs74315489 |
ClinGen | rs74315489 |
ebi | rs74315489 |
HLI | rs74315489 |
Exac | rs74315489 |
Gnomad | rs74315489 |
Varsome | rs74315489 |
LitVar | rs74315489 |
Map | rs74315489 |
PheGenI | rs74315489 |
Biobank | rs74315489 |
1000 genomes | rs74315489 |
hgdp | rs74315489 |
ensembl | rs74315489 |
geneview | rs74315489 |
scholar | rs74315489 |
rs74315489 | |
pharmgkb | rs74315489 |
gwascentral | rs74315489 |
openSNP | rs74315489 |
23andMe | rs74315489 |
SNPshot | rs74315489 |
SNPdbe | rs74315489 |
MSV3d | rs74315489 |
GWAS Ctlg | rs74315489 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315489(T;T) |
Alt | rs74315489(T;T) |
Reference | Rs74315489(C;C) |
Significance | Pathogenic |
Disease | Cataract 3 Congenital cataract |
Variation | info |
Gene | CRYBB2 |
CLNDBN | Cataract 3, multiple types Congenital cataract |
Reversed | 0 |
HGVS | NC_000022.10:g.25627584C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018458.29, RCV000490780.1, |