rs587777601
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587777601(A;A) |
Make rs587777601(A;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 22 |
Position | 25207157 |
Gene | CRYBB3 |
is a | snp |
is | mentioned by |
dbSNP | rs587777601 |
dbSNP (classic) | rs587777601 |
ClinGen | rs587777601 |
ebi | rs587777601 |
HLI | rs587777601 |
Exac | rs587777601 |
Gnomad | rs587777601 |
Varsome | rs587777601 |
LitVar | rs587777601 |
Map | rs587777601 |
PheGenI | rs587777601 |
Biobank | rs587777601 |
1000 genomes | rs587777601 |
hgdp | rs587777601 |
ensembl | rs587777601 |
geneview | rs587777601 |
scholar | rs587777601 |
rs587777601 | |
pharmgkb | rs587777601 |
gwascentral | rs587777601 |
openSNP | rs587777601 |
23andMe | rs587777601 |
SNPshot | rs587777601 |
SNPdbe | rs587777601 |
MSV3d | rs587777601 |
GWAS Ctlg | rs587777601 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777601(A;A) |
Alt | rs587777601(A;A) |
Reference | Rs587777601(T;T) |
Significance | Pathogenic |
Disease | Cataract |
Variation | info |
Gene | CRYBB3 |
CLNDBN | Cataract, congenital nuclear, autosomal recessive 2 |
Reversed | 0 |
HGVS | NC_000022.10:g.25603124T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000132765.2, |