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rs886037965

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs886037965(C;C)
Make rs886037965(C;T)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position50349690
GeneCYB561D2, NPRL2
is asnp
is mentioned by
dbSNPrs886037965
dbSNP (classic)rs886037965
ClinGenrs886037965
ebirs886037965
HLIrs886037965
Exacrs886037965
Gnomadrs886037965
Varsomers886037965
LitVarrs886037965
Maprs886037965
PheGenIrs886037965
Biobankrs886037965
1000 genomesrs886037965
hgdprs886037965
ensemblrs886037965
geneviewrs886037965
scholarrs886037965
googlers886037965
pharmgkbrs886037965
gwascentralrs886037965
openSNPrs886037965
23andMers886037965
SNPshotrs886037965
SNPdbers886037965
MSV3drs886037965
GWAS Ctlgrs886037965
Max Magnitude0
ClinVar
Risk rs886037965(C;C)
Alt rs886037965(C;C)
Reference Rs886037965(T;T)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene NPRL2 CYB561D2
CLNDBN Epilepsy, familial focal, with variable foci 2
Reversed 1
HGVS NC_000003.11:g.50387121A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000241152.1,