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rs886039760

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886039760(G;T)
Make rs886039760(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position132676476
GeneNPHP3-ACAD11, UBA5
is asnp
is mentioned by
dbSNPrs886039760
dbSNP (classic)rs886039760
ClinGenrs886039760
ebirs886039760
HLIrs886039760
Exacrs886039760
Gnomadrs886039760
Varsomers886039760
LitVarrs886039760
Maprs886039760
PheGenIrs886039760
Biobankrs886039760
1000 genomesrs886039760
hgdprs886039760
ensemblrs886039760
geneviewrs886039760
scholarrs886039760
googlers886039760
pharmgkbrs886039760
gwascentralrs886039760
openSNPrs886039760
23andMers886039760
23andMe allrs886039760
SNPshotrs886039760
SNPdbers886039760
MSV3drs886039760
GWAS Ctlgrs886039760
Max Magnitude0
ClinVar
Risk rs886039760(T;T)
Alt rs886039760(T;T)
Reference Rs886039760(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.132395320G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000255798.1,