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rs886039761

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886039761(A;A)
Make rs886039761(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position132670973
GeneNPHP3-ACAD11, UBA5
is asnp
is mentioned by
dbSNPrs886039761
dbSNP (classic)rs886039761
ClinGenrs886039761
ebirs886039761
HLIrs886039761
Exacrs886039761
Gnomadrs886039761
Varsomers886039761
LitVarrs886039761
Maprs886039761
PheGenIrs886039761
Biobankrs886039761
1000 genomesrs886039761
hgdprs886039761
ensemblrs886039761
geneviewrs886039761
scholarrs886039761
googlers886039761
pharmgkbrs886039761
gwascentralrs886039761
openSNPrs886039761
23andMers886039761
23andMe allrs886039761
SNPshotrs886039761
SNPdbers886039761
MSV3drs886039761
GWAS Ctlgrs886039761
Max Magnitude0
ClinVar
Risk rs886039761(A;A)
Alt rs886039761(A;A)
Reference Rs886039761(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.132389817G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000254833.1,