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rs797045551

From SNPedia

Orientationminus
Make rs797045551(-;-)
Make rs797045551(-;AT)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44863770
GeneEFTUD2
is asnp
is mentioned by
dbSNPrs797045551
ebirs797045551
HLIrs797045551
Exacrs797045551
Varsomers797045551
Maprs797045551
PheGenIrs797045551
hapmaprs797045551
1000 genomesrs797045551
hgdprs797045551
ensemblrs797045551
gopubmedrs797045551
geneviewrs797045551
scholarrs797045551
googlers797045551
pharmgkbrs797045551
gwascentralrs797045551
openSNPrs797045551
23andMers797045551
23andMe allrs797045551
SNP Nexus

SNPshotrs797045551
SNPdbers797045551
MSV3drs797045551
GWAS Ctlgrs797045551
Max Magnitude
ClinVar
Risk rs797045551(;)
Alt rs797045551(;)
Reference rs797045551(AT;AT)
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.42941138_42941139delAT
CLNSRC
CLNACC RCV000192370.1,