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rs886039758

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs886039758(-;C)
Make rs886039758(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position132675627
GeneNPHP3-ACAD11, UBA5
is asnp
is mentioned by
dbSNPrs886039758
dbSNP (classic)rs886039758
ClinGenrs886039758
ebirs886039758
HLIrs886039758
Exacrs886039758
Gnomadrs886039758
Varsomers886039758
LitVarrs886039758
Maprs886039758
PheGenIrs886039758
Biobankrs886039758
1000 genomesrs886039758
hgdprs886039758
ensemblrs886039758
geneviewrs886039758
scholarrs886039758
googlers886039758
pharmgkbrs886039758
gwascentralrs886039758
openSNPrs886039758
23andMers886039758
23andMe allrs886039758
SNPshotrs886039758
SNPdbers886039758
MSV3drs886039758
GWAS Ctlgrs886039758
Max Magnitude0
ClinVar
Risk rs886039758(C;C)
Alt rs886039758(C;C)
Reference Rs886039758(-;-)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene UBA5 NPHP3-ACAD11
CLNDBN Epileptic encephalopathy, early infantile, 44
Reversed 0
HGVS NC_000003.11:g.132394471_132394472insC
CLNSRC OMIM Allelic Variant
CLNACC RCV000256096.1,