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rs387906977

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906977(C;T)
Make rs387906977(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position95812970
GeneCEP57
is asnp
is mentioned by
dbSNPrs387906977
ebirs387906977
HLIrs387906977
Exacrs387906977
Varsomers387906977
Maprs387906977
PheGenIrs387906977
hapmaprs387906977
1000 genomesrs387906977
hgdprs387906977
ensemblrs387906977
gopubmedrs387906977
geneviewrs387906977
scholarrs387906977
googlers387906977
pharmgkbrs387906977
gwascentralrs387906977
openSNPrs387906977
23andMers387906977
23andMe allrs387906977
SNP Nexus

SNPshotrs387906977
SNPdbers387906977
MSV3drs387906977
GWAS Ctlgrs387906977
Max Magnitude0
ClinVar
Risk rs387906977(T;T)
Alt rs387906977(T;T)
Reference rs387906977(C;C)
Significance Pathogenic
Disease Mosaic variegated aneuploidy syndrome 2
Variation info
Gene CEP57
CLNDBN Mosaic variegated aneuploidy syndrome 2
Reversed 0
HGVS NC_000011.9:g.95546134C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023670.2,