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rs387906877

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906877(C;T)
Make rs387906877(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44876019
GeneEFTUD2
is asnp
is mentioned by
dbSNPrs387906877
ebirs387906877
HLIrs387906877
Exacrs387906877
Varsomers387906877
Maprs387906877
PheGenIrs387906877
hapmaprs387906877
1000 genomesrs387906877
hgdprs387906877
ensemblrs387906877
gopubmedrs387906877
geneviewrs387906877
scholarrs387906877
googlers387906877
pharmgkbrs387906877
gwascentralrs387906877
openSNPrs387906877
23andMers387906877
23andMe allrs387906877
SNP Nexus

SNPshotrs387906877
SNPdbers387906877
MSV3drs387906877
GWAS Ctlgrs387906877
Max Magnitude0
ClinVar
Risk rs387906877(T;T)
Alt rs387906877(T;T)
Reference rs387906877(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.42953387G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023353.3,