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rs727502818

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502818(A;A)
Make rs727502818(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position17772053
GeneKCNC1
is asnp
is mentioned by
dbSNPrs727502818
ebirs727502818
HLIrs727502818
Exacrs727502818
Varsomers727502818
Maprs727502818
PheGenIrs727502818
hapmaprs727502818
1000 genomesrs727502818
hgdprs727502818
ensemblrs727502818
gopubmedrs727502818
geneviewrs727502818
scholarrs727502818
googlers727502818
pharmgkbrs727502818
gwascentralrs727502818
openSNPrs727502818
23andMers727502818
23andMe allrs727502818
SNP Nexus

SNPshotrs727502818
SNPdbers727502818
MSV3drs727502818
GWAS Ctlgrs727502818
Max Magnitude0
ClinVar
Risk rs727502818(A;A)
Alt rs727502818(A;A)
Reference rs727502818(G;G)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene KCNC1
CLNDBN Epilepsy, progressive myoclonic 7
Reversed 0
HGVS NC_000011.9:g.17793600G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149909.3,