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rs387906878

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906878(C;T)
Make rs387906878(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44851763
GeneEFTUD2
is asnp
is mentioned by
dbSNPrs387906878
ebirs387906878
HLIrs387906878
Exacrs387906878
Varsomers387906878
Maprs387906878
PheGenIrs387906878
hapmaprs387906878
1000 genomesrs387906878
hgdprs387906878
ensemblrs387906878
gopubmedrs387906878
geneviewrs387906878
scholarrs387906878
googlers387906878
pharmgkbrs387906878
gwascentralrs387906878
openSNPrs387906878
23andMers387906878
23andMe allrs387906878
SNP Nexus

SNPshotrs387906878
SNPdbers387906878
MSV3drs387906878
GWAS Ctlgrs387906878
Max Magnitude0
ClinVar
Risk rs387906878(T;T)
Alt rs387906878(T;T)
Reference rs387906878(C;C)
Significance Pathogenic
Disease Growth and mental retardation
Variation info
Gene EFTUD2
CLNDBN Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
Reversed 1
HGVS NC_000017.10:g.42929131G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023354.3,