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rs886039756

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs886039756(C;T)
Make rs886039756(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position132665842
GeneNPHP3-ACAD11, UBA5
is asnp
is mentioned by
dbSNPrs886039756
dbSNP (classic)rs886039756
ClinGenrs886039756
ebirs886039756
HLIrs886039756
Exacrs886039756
Gnomadrs886039756
Varsomers886039756
LitVarrs886039756
Maprs886039756
PheGenIrs886039756
Biobankrs886039756
1000 genomesrs886039756
hgdprs886039756
ensemblrs886039756
geneviewrs886039756
scholarrs886039756
googlers886039756
pharmgkbrs886039756
gwascentralrs886039756
openSNPrs886039756
23andMers886039756
23andMe allrs886039756
SNPshotrs886039756
SNPdbers886039756
MSV3drs886039756
GWAS Ctlgrs886039756
Max Magnitude0
ClinVar
Risk rs886039756(T;T)
Alt rs886039756(T;T)
Reference Rs886039756(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene UBA5 NPHP3-ACAD11
CLNDBN Epileptic encephalopathy, early infantile, 44
Reversed 0
HGVS NC_000003.11:g.132384686C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000256120.1,