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rs587777622

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777622(C;G)
Make rs587777622(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position4299981
GeneCCND2
is asnp
is mentioned by
dbSNPrs587777622
ebirs587777622
HLIrs587777622
Exacrs587777622
Varsomers587777622
Maprs587777622
PheGenIrs587777622
hapmaprs587777622
1000 genomesrs587777622
hgdprs587777622
ensemblrs587777622
gopubmedrs587777622
geneviewrs587777622
scholarrs587777622
googlers587777622
pharmgkbrs587777622
gwascentralrs587777622
openSNPrs587777622
23andMers587777622
23andMe allrs587777622
SNP Nexus

SNPshotrs587777622
SNPdbers587777622
MSV3drs587777622
GWAS Ctlgrs587777622
Max Magnitude0
ClinVar
Risk rs587777622(G,T;G,T)
Alt rs587777622(G,T;G,T)
Reference rs587777622(C;C)
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.4409147C>G; NC_000012.11:g.4409147C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000133499.2, RCV000133500.2,