Have questions? Visit https://www.reddit.com/r/SNPedia

rs794729651

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs794729651(-;T)
Make rs794729651(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44876038
GeneEFTUD2
is asnp
is mentioned by
dbSNPrs794729651
ClinGenrs794729651
ebirs794729651
HLIrs794729651
Exacrs794729651
Varsomers794729651
Maprs794729651
PheGenIrs794729651
hapmaprs794729651
1000 genomesrs794729651
hgdprs794729651
ensemblrs794729651
gopubmedrs794729651
geneviewrs794729651
scholarrs794729651
googlers794729651
pharmgkbrs794729651
gwascentralrs794729651
openSNPrs794729651
23andMers794729651
23andMe allrs794729651
SNP Nexus

SNPshotrs794729651
SNPdbers794729651
MSV3drs794729651
GWAS Ctlgrs794729651
Max Magnitude0
ClinVar
Risk rs794729651(T;T)
Alt rs794729651(T;T)
Reference Rs794729651(;)
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.42953407dupA
CLNSRC
CLNACC RCV000185561.2,