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rs587777618

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777618(A;G)
Make rs587777618(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position4299977
GeneCCND2
is asnp
is mentioned by
dbSNPrs587777618
ebirs587777618
HLIrs587777618
Exacrs587777618
Varsomers587777618
Maprs587777618
PheGenIrs587777618
hapmaprs587777618
1000 genomesrs587777618
hgdprs587777618
ensemblrs587777618
gopubmedrs587777618
geneviewrs587777618
scholarrs587777618
googlers587777618
pharmgkbrs587777618
gwascentralrs587777618
openSNPrs587777618
23andMers587777618
23andMe allrs587777618
SNP Nexus

SNPshotrs587777618
SNPdbers587777618
MSV3drs587777618
GWAS Ctlgrs587777618
Max Magnitude0
ClinVar
Risk rs587777618(G;G)
Alt rs587777618(G;G)
Reference rs587777618(A;A)
Significance Pathogenic
Disease Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Variation info
Gene CCND2
CLNDBN Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Reversed 0
HGVS NC_000012.11:g.4409143A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000133495.2,