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rs587777621

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777621(C;T)
Make rs587777621(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position4299980
GeneCCND2
is asnp
is mentioned by
dbSNPrs587777621
ebirs587777621
HLIrs587777621
Exacrs587777621
Varsomers587777621
Maprs587777621
PheGenIrs587777621
hapmaprs587777621
1000 genomesrs587777621
hgdprs587777621
ensemblrs587777621
gopubmedrs587777621
geneviewrs587777621
scholarrs587777621
googlers587777621
pharmgkbrs587777621
gwascentralrs587777621
openSNPrs587777621
23andMers587777621
23andMe allrs587777621
SNP Nexus

SNPshotrs587777621
SNPdbers587777621
MSV3drs587777621
GWAS Ctlgrs587777621
Max Magnitude0
ClinVar
Risk rs587777621(T;T)
Alt rs587777621(T;T)
Reference rs587777621(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.4409146C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000133498.2,