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rs879253727

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879253727(C;G)
Make rs879253727(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position44853361
GeneEFTUD2
is asnp
is mentioned by
dbSNPrs879253727
ebirs879253727
HLIrs879253727
Exacrs879253727
Varsomers879253727
Maprs879253727
PheGenIrs879253727
hapmaprs879253727
1000 genomesrs879253727
hgdprs879253727
ensemblrs879253727
gopubmedrs879253727
geneviewrs879253727
scholarrs879253727
googlers879253727
pharmgkbrs879253727
gwascentralrs879253727
openSNPrs879253727
23andMers879253727
23andMe allrs879253727
SNP Nexus

SNPshotrs879253727
SNPdbers879253727
MSV3drs879253727
GWAS Ctlgrs879253727
Max Magnitude0
ClinVar
Risk rs879253727(G;G)
Alt rs879253727(G;G)
Reference rs879253727(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.42930729G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024338.3,