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rs387907263

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 3 Carrier of progressive myoclonus epilepsy allele
(C;C) 0 common in clinvar


Make rs387907263(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position66638260
GeneKCTD7
is asnp
is mentioned by
dbSNPrs387907263
ebirs387907263
HLIrs387907263
Exacrs387907263
Varsomers387907263
Maprs387907263
PheGenIrs387907263
hapmaprs387907263
1000 genomesrs387907263
hgdprs387907263
ensemblrs387907263
gopubmedrs387907263
geneviewrs387907263
scholarrs387907263
googlers387907263
pharmgkbrs387907263
gwascentralrs387907263
openSNPrs387907263
23andMers387907263
23andMe allrs387907263
SNP Nexus

SNPshotrs387907263
SNPdbers387907263
MSV3drs387907263
GWAS Ctlgrs387907263
Max Magnitude3
ClinVar
Risk rs387907263(A;A)
Alt rs387907263(A;A)
Reference rs387907263(C;C)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene KCTD7
CLNDBN Epilepsy, progressive myoclonic 3
Reversed 0
HGVS NC_000007.13:g.66103247C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030690.4,