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rs1057518932

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518932(A;T)
Make rs1057518932(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position44855003
GeneEFTUD2
is asnp
is mentioned by
dbSNPrs1057518932
dbSNP (old)rs1057518932
ClinGenrs1057518932
ebirs1057518932
HLIrs1057518932
Exacrs1057518932
Gnomadrs1057518932
Varsomers1057518932
Maprs1057518932
PheGenIrs1057518932
Biobankrs1057518932
1000 genomesrs1057518932
hgdprs1057518932
ensemblrs1057518932
gopubmedrs1057518932
geneviewrs1057518932
scholarrs1057518932
googlers1057518932
pharmgkbrs1057518932
gwascentralrs1057518932
openSNPrs1057518932
23andMers1057518932
23andMe allrs1057518932
SNPshotrs1057518932
SNPdbers1057518932
MSV3drs1057518932
GWAS Ctlgrs1057518932
Max Magnitude0
ClinVar
Risk rs1057518932(T;T)
Alt rs1057518932(T;T)
Reference Rs1057518932(A;A)
Significance Probable-Pathogenic
Disease Global developmental delay Seizures
Variation info
Gene EFTUD2
CLNDBN Global developmental delay Seizures
Reversed 1
HGVS NC_000017.10:g.42932371T>A
CLNSRC
CLNACC RCV000415160.1,