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rs587777620

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777620(A;A)
Make rs587777620(A;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position4299978
GeneCCND2
is asnp
is mentioned by
dbSNPrs587777620
ebirs587777620
HLIrs587777620
Exacrs587777620
Varsomers587777620
Maprs587777620
PheGenIrs587777620
hapmaprs587777620
1000 genomesrs587777620
hgdprs587777620
ensemblrs587777620
gopubmedrs587777620
geneviewrs587777620
scholarrs587777620
googlers587777620
pharmgkbrs587777620
gwascentralrs587777620
openSNPrs587777620
23andMers587777620
23andMe allrs587777620
SNP Nexus

SNPshotrs587777620
SNPdbers587777620
MSV3drs587777620
GWAS Ctlgrs587777620
Max Magnitude0
ClinVar
Risk rs587777620(A,T;A,T)
Alt rs587777620(A,T;A,T)
Reference rs587777620(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.4409144C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000133497.2,