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rs532178791

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs532178791(A;G)
Make rs532178791(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position132665830
GeneNPHP3-ACAD11, UBA5
is asnp
is mentioned by
dbSNPrs532178791
dbSNP (classic)rs532178791
ClinGenrs532178791
ebirs532178791
HLIrs532178791
Exacrs532178791
Gnomadrs532178791
Varsomers532178791
LitVarrs532178791
Maprs532178791
PheGenIrs532178791
Biobankrs532178791
1000 genomesrs532178791
hgdprs532178791
ensemblrs532178791
geneviewrs532178791
scholarrs532178791
googlers532178791
pharmgkbrs532178791
gwascentralrs532178791
openSNPrs532178791
23andMers532178791
23andMe allrs532178791
SNPshotrs532178791
SNPdbers532178791
MSV3drs532178791
GWAS Ctlgrs532178791
Max Magnitude0
ClinVar
Risk rs532178791(G;G)
Alt rs532178791(G;G)
Reference Rs532178791(A;A)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene UBA5 NPHP3-ACAD11
CLNDBN Epileptic encephalopathy, early infantile, 44
Reversed 0
HGVS NC_000003.11:g.132384674A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000255216.1,