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rs387907261

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 Carrier of progressive myoclonus epilepsy allele
Make rs387907261(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position66639180
GeneKCTD7
is asnp
is mentioned by
dbSNPrs387907261
ebirs387907261
HLIrs387907261
Exacrs387907261
Varsomers387907261
Maprs387907261
PheGenIrs387907261
hapmaprs387907261
1000 genomesrs387907261
hgdprs387907261
ensemblrs387907261
gopubmedrs387907261
geneviewrs387907261
scholarrs387907261
googlers387907261
pharmgkbrs387907261
gwascentralrs387907261
openSNPrs387907261
23andMers387907261
23andMe allrs387907261
SNP Nexus

SNPshotrs387907261
SNPdbers387907261
MSV3drs387907261
GWAS Ctlgrs387907261
Max Magnitude3
ClinVar
Risk rs387907261(T;T)
Alt rs387907261(T;T)
Reference rs387907261(A;A)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene KCTD7
CLNDBN Epilepsy, progressive myoclonic 3
Reversed 0
HGVS NC_000007.13:g.66104167A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030688.4,