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rs879253728

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879253728(-;-)
Make rs879253728(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position44851709
GeneEFTUD2
is asnp
is mentioned by
dbSNPrs879253728
ebirs879253728
HLIrs879253728
Exacrs879253728
Varsomers879253728
Maprs879253728
PheGenIrs879253728
hapmaprs879253728
1000 genomesrs879253728
hgdprs879253728
ensemblrs879253728
gopubmedrs879253728
geneviewrs879253728
scholarrs879253728
googlers879253728
pharmgkbrs879253728
gwascentralrs879253728
openSNPrs879253728
23andMers879253728
23andMe allrs879253728
SNP Nexus

SNPshotrs879253728
SNPdbers879253728
MSV3drs879253728
GWAS Ctlgrs879253728
Max Magnitude0
ClinVar
Risk rs879253728(;)
Alt rs879253728(;)
Reference rs879253728(G;G)
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.42929077delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000033146.3,