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rs387907246

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of progressive myoclonus epilepsy allele
Make rs387907246(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position66638912
GeneKCTD7
is asnp
is mentioned by
dbSNPrs387907246
ebirs387907246
HLIrs387907246
Exacrs387907246
Varsomers387907246
Maprs387907246
PheGenIrs387907246
hapmaprs387907246
1000 genomesrs387907246
hgdprs387907246
ensemblrs387907246
gopubmedrs387907246
geneviewrs387907246
scholarrs387907246
googlers387907246
pharmgkbrs387907246
gwascentralrs387907246
openSNPrs387907246
23andMers387907246
23andMe allrs387907246
SNP Nexus

SNPshotrs387907246
SNPdbers387907246
MSV3drs387907246
GWAS Ctlgrs387907246
Max Magnitude3
ClinVar
Risk rs387907246(T;T)
Alt rs387907246(T;T)
Reference rs387907246(C;C)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene KCTD7
CLNDBN Epilepsy, progressive myoclonic, 3, with intracellular inclusions
Reversed 0
HGVS NC_000007.13:g.66103899C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030608.3,