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rs114402678

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs114402678(A;A)
Make rs114402678(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position67483797
GeneCPA6, LOC102724708
is asnp
is mentioned by
dbSNPrs114402678
dbSNP (classic)rs114402678
ClinGenrs114402678
ebirs114402678
HLIrs114402678
Exacrs114402678
Gnomadrs114402678
Varsomers114402678
LitVarrs114402678
Maprs114402678
PheGenIrs114402678
Biobankrs114402678
1000 genomesrs114402678
hgdprs114402678
ensemblrs114402678
geneviewrs114402678
scholarrs114402678
googlers114402678
pharmgkbrs114402678
gwascentralrs114402678
openSNPrs114402678
23andMers114402678
SNPshotrs114402678
SNPdbers114402678
MSV3drs114402678
GWAS Ctlgrs114402678
GMAF0.002755
Max Magnitude0
ClinVar
Risk rs114402678(A;A)
Alt rs114402678(A;A)
Reference Rs114402678(G;G)
Significance Pathogenic
Disease Febrile seizures not specified
Variation info
Gene CPA6 LOC102724708
CLNDBN Febrile seizures, familial, 11 not specified
Reversed 0
HGVS NC_000008.10:g.68396032G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023776.3, RCV000180353.1,