rs587779732
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587779732(C;G) |
Make rs587779732(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 15596177 |
Gene | CC2D2A |
is a | snp |
is | mentioned by |
dbSNP | rs587779732 |
dbSNP (classic) | rs587779732 |
ClinGen | rs587779732 |
ebi | rs587779732 |
HLI | rs587779732 |
Exac | rs587779732 |
Gnomad | rs587779732 |
Varsome | rs587779732 |
LitVar | rs587779732 |
Map | rs587779732 |
PheGenI | rs587779732 |
Biobank | rs587779732 |
1000 genomes | rs587779732 |
hgdp | rs587779732 |
ensembl | rs587779732 |
geneview | rs587779732 |
scholar | rs587779732 |
rs587779732 | |
pharmgkb | rs587779732 |
gwascentral | rs587779732 |
openSNP | rs587779732 |
23andMe | rs587779732 |
SNPshot | rs587779732 |
SNPdbe | rs587779732 |
MSV3d | rs587779732 |
GWAS Ctlg | rs587779732 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587779732(A;A) rs587779732(G;G) rs587779732(T;T) |
Alt | rs587779732(A;A) rs587779732(G;G) rs587779732(T;T) |
Reference | Rs587779732(C;C) |
Significance | Probable-Pathogenic |
Disease | Meckel-Gruber syndrome |
Variation | info |
Gene | CC2D2A |
CLNDBN | Meckel-Gruber syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.15597800C>G |
CLNSRC | |
CLNACC | RCV000114181.1, |