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rs886039757

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs886039757(C;T)
Make rs886039757(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position132675339
GeneNPHP3-ACAD11, UBA5
is asnp
is mentioned by
dbSNPrs886039757
dbSNP (classic)rs886039757
ClinGenrs886039757
ebirs886039757
HLIrs886039757
Exacrs886039757
Gnomadrs886039757
Varsomers886039757
LitVarrs886039757
Maprs886039757
PheGenIrs886039757
Biobankrs886039757
1000 genomesrs886039757
hgdprs886039757
ensemblrs886039757
geneviewrs886039757
scholarrs886039757
googlers886039757
pharmgkbrs886039757
gwascentralrs886039757
openSNPrs886039757
23andMers886039757
23andMe allrs886039757
SNPshotrs886039757
SNPdbers886039757
MSV3drs886039757
GWAS Ctlgrs886039757
Max Magnitude0
ClinVar
Risk rs886039757(T;T)
Alt rs886039757(T;T)
Reference Rs886039757(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.132394183C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000255716.1,