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rs886037966

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs886037966(-;-)
Make rs886037966(-;TC)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position50350584
GeneCYB561D2, NPRL2
is asnp
is mentioned by
dbSNPrs886037966
dbSNP (classic)rs886037966
ClinGenrs886037966
ebirs886037966
HLIrs886037966
Exacrs886037966
Gnomadrs886037966
Varsomers886037966
LitVarrs886037966
Maprs886037966
PheGenIrs886037966
Biobankrs886037966
1000 genomesrs886037966
hgdprs886037966
ensemblrs886037966
geneviewrs886037966
scholarrs886037966
googlers886037966
pharmgkbrs886037966
gwascentralrs886037966
openSNPrs886037966
23andMers886037966
SNPshotrs886037966
SNPdbers886037966
MSV3drs886037966
GWAS Ctlgrs886037966
Max Magnitude0
ClinVar
Risk rs886037966(-;-)
Alt rs886037966(-;-)
Reference Rs886037966(TC;TC)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene CYB561D2 NPRL2
CLNDBN Epilepsy, familial focal, with variable foci 2
Reversed 1
HGVS NC_000003.11:g.50388015_50388016delGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000241360.1,