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rs267607199

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of progressive myoclonus epilepsy allele
Make rs267607199(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position66633425
GeneKCTD7
is asnp
is mentioned by
dbSNPrs267607199
ebirs267607199
HLIrs267607199
Exacrs267607199
Varsomers267607199
Maprs267607199
PheGenIrs267607199
hapmaprs267607199
1000 genomesrs267607199
hgdprs267607199
ensemblrs267607199
gopubmedrs267607199
geneviewrs267607199
scholarrs267607199
googlers267607199
pharmgkbrs267607199
gwascentralrs267607199
openSNPrs267607199
23andMers267607199
23andMe allrs267607199
SNP Nexus

SNPshotrs267607199
SNPdbers267607199
MSV3drs267607199
GWAS Ctlgrs267607199
Max Magnitude3
ClinVar
Risk rs267607199(A,T;A,T)
Alt rs267607199(A,T;A,T)
Reference rs267607199(C;C)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene KCTD7
CLNDBN Epilepsy, progressive myoclonic 3
Reversed 0
HGVS NC_000007.13:g.66098412C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000886.3,