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rs387907260

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of progressive myoclonus epilepsy allele
Make rs387907260(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position66633410
GeneKCTD7
is asnp
is mentioned by
dbSNPrs387907260
ebirs387907260
HLIrs387907260
Exacrs387907260
Varsomers387907260
Maprs387907260
PheGenIrs387907260
hapmaprs387907260
1000 genomesrs387907260
hgdprs387907260
ensemblrs387907260
gopubmedrs387907260
geneviewrs387907260
scholarrs387907260
googlers387907260
pharmgkbrs387907260
gwascentralrs387907260
openSNPrs387907260
23andMers387907260
23andMe allrs387907260
SNP Nexus

SNPshotrs387907260
SNPdbers387907260
MSV3drs387907260
GWAS Ctlgrs387907260
Max Magnitude3
ClinVar
Risk rs387907260(T;T)
Alt rs387907260(T;T)
Reference rs387907260(C;C)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene KCTD7
CLNDBN Epilepsy, progressive myoclonic 3
Reversed 0
HGVS NC_000007.13:g.66098397C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030687.3,