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rs879253725

From SNPedia

Orientationminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs879253725(-;-)
Make rs879253725(-;GT)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position44860005
GeneEFTUD2
is asnp
is mentioned by
dbSNPrs879253725
ebirs879253725
HLIrs879253725
Exacrs879253725
Varsomers879253725
Maprs879253725
PheGenIrs879253725
hapmaprs879253725
1000 genomesrs879253725
hgdprs879253725
ensemblrs879253725
gopubmedrs879253725
geneviewrs879253725
scholarrs879253725
googlers879253725
pharmgkbrs879253725
gwascentralrs879253725
openSNPrs879253725
23andMers879253725
23andMe allrs879253725
SNP Nexus

SNPshotrs879253725
SNPdbers879253725
MSV3drs879253725
GWAS Ctlgrs879253725
Max Magnitude0
ClinVar
Risk rs879253725(;)
Alt rs879253725(;)
Reference rs879253725(GT;GT)
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.42937373_42937374delAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000023355.4,