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rs745968949

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs745968949(C;T)
Make rs745968949(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position132675290
GeneNPHP3-ACAD11, UBA5
is asnp
is mentioned by
dbSNPrs745968949
dbSNP (classic)rs745968949
ClinGenrs745968949
ebirs745968949
HLIrs745968949
Exacrs745968949
Gnomadrs745968949
Varsomers745968949
LitVarrs745968949
Maprs745968949
PheGenIrs745968949
Biobankrs745968949
1000 genomesrs745968949
hgdprs745968949
ensemblrs745968949
geneviewrs745968949
scholarrs745968949
googlers745968949
pharmgkbrs745968949
gwascentralrs745968949
openSNPrs745968949
23andMers745968949
23andMe allrs745968949
SNPshotrs745968949
SNPdbers745968949
MSV3drs745968949
GWAS Ctlgrs745968949
Max Magnitude0
ClinVar
Risk rs745968949(A;A) rs745968949(T;T)
Alt rs745968949(A;A) rs745968949(T;T)
Reference Rs745968949(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.132394134C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000255496.1,