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rs387906879

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906879(G;G)
Make rs387906879(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44859132
GeneEFTUD2
is asnp
is mentioned by
dbSNPrs387906879
ebirs387906879
HLIrs387906879
Exacrs387906879
Varsomers387906879
Maprs387906879
PheGenIrs387906879
hapmaprs387906879
1000 genomesrs387906879
hgdprs387906879
ensemblrs387906879
gopubmedrs387906879
geneviewrs387906879
scholarrs387906879
googlers387906879
pharmgkbrs387906879
gwascentralrs387906879
openSNPrs387906879
23andMers387906879
23andMe allrs387906879
SNP Nexus

SNPshotrs387906879
SNPdbers387906879
MSV3drs387906879
GWAS Ctlgrs387906879
Max Magnitude0
ClinVar
Risk rs387906879(G;G)
Alt rs387906879(G;G)
Reference rs387906879(T;T)
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.42936500A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023357.3,