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rs587777619

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777619(A;T)
Make rs587777619(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position4299947
GeneCCND2
is asnp
is mentioned by
dbSNPrs587777619
ebirs587777619
HLIrs587777619
Exacrs587777619
Varsomers587777619
Maprs587777619
PheGenIrs587777619
hapmaprs587777619
1000 genomesrs587777619
hgdprs587777619
ensemblrs587777619
gopubmedrs587777619
geneviewrs587777619
scholarrs587777619
googlers587777619
pharmgkbrs587777619
gwascentralrs587777619
openSNPrs587777619
23andMers587777619
23andMe allrs587777619
SNP Nexus

SNPshotrs587777619
SNPdbers587777619
MSV3drs587777619
GWAS Ctlgrs587777619
Max Magnitude0
ClinVar
Risk rs587777619(T;T)
Alt rs587777619(T;T)
Reference rs587777619(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.4409113A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000133496.2,