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rs886039759

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886039759(A;A)
Make rs886039759(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position132672143
GeneNPHP3-ACAD11, UBA5
is asnp
is mentioned by
dbSNPrs886039759
dbSNP (classic)rs886039759
ClinGenrs886039759
ebirs886039759
HLIrs886039759
Exacrs886039759
Gnomadrs886039759
Varsomers886039759
LitVarrs886039759
Maprs886039759
PheGenIrs886039759
Biobankrs886039759
1000 genomesrs886039759
hgdprs886039759
ensemblrs886039759
geneviewrs886039759
scholarrs886039759
googlers886039759
pharmgkbrs886039759
gwascentralrs886039759
openSNPrs886039759
23andMers886039759
23andMe allrs886039759
SNPshotrs886039759
SNPdbers886039759
MSV3drs886039759
GWAS Ctlgrs886039759
Max Magnitude0
ClinVar
Risk rs886039759(A;A)
Alt rs886039759(A;A)
Reference Rs886039759(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene UBA5 NPHP3-ACAD11
CLNDBN Epileptic encephalopathy, early infantile, 44
Reversed 0
HGVS NC_000003.11:g.132390987G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000255234.1,