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rs774318611

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs774318611(A;A)
Make rs774318611(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position132665825
GeneNPHP3-ACAD11, UBA5
is asnp
is mentioned by
dbSNPrs774318611
dbSNP (classic)rs774318611
ClinGenrs774318611
ebirs774318611
HLIrs774318611
Exacrs774318611
Gnomadrs774318611
Varsomers774318611
LitVarrs774318611
Maprs774318611
PheGenIrs774318611
Biobankrs774318611
1000 genomesrs774318611
hgdprs774318611
ensemblrs774318611
geneviewrs774318611
scholarrs774318611
googlers774318611
pharmgkbrs774318611
gwascentralrs774318611
openSNPrs774318611
23andMers774318611
23andMe allrs774318611
SNPshotrs774318611
SNPdbers774318611
MSV3drs774318611
GWAS Ctlgrs774318611
Max Magnitude0
ClinVar
Risk rs774318611(A;A)
Alt rs774318611(A;A)
Reference Rs774318611(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.132384669G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000254932.1,