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rs863224868

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863224868(G;G)
Make rs863224868(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44857073
GeneEFTUD2
is asnp
is mentioned by
dbSNPrs863224868
ebirs863224868
HLIrs863224868
Exacrs863224868
Varsomers863224868
Maprs863224868
PheGenIrs863224868
hapmaprs863224868
1000 genomesrs863224868
hgdprs863224868
ensemblrs863224868
gopubmedrs863224868
geneviewrs863224868
scholarrs863224868
googlers863224868
pharmgkbrs863224868
gwascentralrs863224868
openSNPrs863224868
23andMers863224868
23andMe allrs863224868
SNP Nexus

SNPshotrs863224868
SNPdbers863224868
MSV3drs863224868
GWAS Ctlgrs863224868
Max Magnitude0
ClinVar
Risk rs863224868(G;G)
Alt rs863224868(G;G)
Reference rs863224868(T;T)
Significance Probable-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.42934441A>C
CLNSRC
CLNACC RCV000197354.1,