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rs879253726

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879253726(A;A)
Make rs879253726(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position44853364
GeneEFTUD2
is asnp
is mentioned by
dbSNPrs879253726
ebirs879253726
HLIrs879253726
Exacrs879253726
Varsomers879253726
Maprs879253726
PheGenIrs879253726
hapmaprs879253726
1000 genomesrs879253726
hgdprs879253726
ensemblrs879253726
gopubmedrs879253726
geneviewrs879253726
scholarrs879253726
googlers879253726
pharmgkbrs879253726
gwascentralrs879253726
openSNPrs879253726
23andMers879253726
23andMe allrs879253726
SNP Nexus

SNPshotrs879253726
SNPdbers879253726
MSV3drs879253726
GWAS Ctlgrs879253726
Max Magnitude0
ClinVar
Risk rs879253726(A;A)
Alt rs879253726(A;A)
Reference rs879253726(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.42930732G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023356.3,