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rs587779732

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779732(C;G)
Make rs587779732(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position15596177
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs587779732
ebirs587779732
HLIrs587779732
Exacrs587779732
Varsomers587779732
Maprs587779732
PheGenIrs587779732
hapmaprs587779732
1000 genomesrs587779732
hgdprs587779732
ensemblrs587779732
gopubmedrs587779732
geneviewrs587779732
scholarrs587779732
googlers587779732
pharmgkbrs587779732
gwascentralrs587779732
openSNPrs587779732
23andMers587779732
23andMe allrs587779732
SNP Nexus

SNPshotrs587779732
SNPdbers587779732
MSV3drs587779732
GWAS Ctlgrs587779732
Max Magnitude0
ClinVar
Risk rs587779732(G,T;G,T)
Alt rs587779732(G,T;G,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,