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

rs397515431

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515431(A;G)
Make rs397515431(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44879635
GeneEFTUD2
is asnp
is mentioned by
dbSNPrs397515431
ebirs397515431
HLIrs397515431
Exacrs397515431
Varsomers397515431
Maprs397515431
PheGenIrs397515431
hapmaprs397515431
1000 genomesrs397515431
hgdprs397515431
ensemblrs397515431
gopubmedrs397515431
geneviewrs397515431
scholarrs397515431
googlers397515431
pharmgkbrs397515431
gwascentralrs397515431
openSNPrs397515431
23andMers397515431
23andMe allrs397515431
SNP Nexus

SNPshotrs397515431
SNPdbers397515431
MSV3drs397515431
GWAS Ctlgrs397515431
Max Magnitude0
ClinVar
Risk rs397515431(G;G)
Alt rs397515431(G;G)
Reference rs397515431(A;A)
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.42957003T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033145.3,