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rs374052333

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs374052333(C;T)
Make rs374052333(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position132671032
GeneNPHP3-ACAD11, UBA5
is asnp
is mentioned by
dbSNPrs374052333
dbSNP (classic)rs374052333
ClinGenrs374052333
ebirs374052333
HLIrs374052333
Exacrs374052333
Gnomadrs374052333
Varsomers374052333
LitVarrs374052333
Maprs374052333
PheGenIrs374052333
Biobankrs374052333
1000 genomesrs374052333
hgdprs374052333
ensemblrs374052333
geneviewrs374052333
scholarrs374052333
googlers374052333
pharmgkbrs374052333
gwascentralrs374052333
openSNPrs374052333
23andMers374052333
23andMe allrs374052333
SNPshotrs374052333
SNPdbers374052333
MSV3drs374052333
GWAS Ctlgrs374052333
Max Magnitude0
ClinVar
Risk rs374052333(G;G) rs374052333(T;T)
Alt rs374052333(G;G) rs374052333(T;T)
Reference Rs374052333(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.132389876C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000255198.1,