rs864309683
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs864309683(C;C) |
Make rs864309683(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 25231710 |
Gene | CRYBB2 |
is a | snp |
is | mentioned by |
dbSNP | rs864309683 |
dbSNP (classic) | rs864309683 |
ClinGen | rs864309683 |
ebi | rs864309683 |
HLI | rs864309683 |
Exac | rs864309683 |
Gnomad | rs864309683 |
Varsome | rs864309683 |
LitVar | rs864309683 |
Map | rs864309683 |
PheGenI | rs864309683 |
Biobank | rs864309683 |
1000 genomes | rs864309683 |
hgdp | rs864309683 |
ensembl | rs864309683 |
geneview | rs864309683 |
scholar | rs864309683 |
rs864309683 | |
pharmgkb | rs864309683 |
gwascentral | rs864309683 |
openSNP | rs864309683 |
23andMe | rs864309683 |
SNPshot | rs864309683 |
SNPdbe | rs864309683 |
MSV3d | rs864309683 |
GWAS Ctlg | rs864309683 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309683(C;C) |
Alt | rs864309683(C;C) |
Reference | Rs864309683(T;T) |
Significance | Probable-Pathogenic |
Disease | Congenital cataract |
Variation | info |
Gene | CRYBB2 |
CLNDBN | Congenital cataract |
Reversed | 0 |
HGVS | NC_000022.10:g.25627677T>C |
CLNSRC | |
CLNACC | RCV000203398.1, |