rs727502818

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs727502818(A;A)

Make rs727502818(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

17772053

Gene

KCNC1

is a	snp
is	mentioned by
dbSNP	rs727502818
dbSNP (classic)	rs727502818
ClinGen	rs727502818
ebi	rs727502818
HLI	rs727502818
Exac	rs727502818
Gnomad	rs727502818
Varsome	rs727502818
LitVar	rs727502818
Map	rs727502818
PheGenI	rs727502818
Biobank	rs727502818
1000 genomes	rs727502818
hgdp	rs727502818
ensembl	rs727502818
geneview	rs727502818
scholar	rs727502818
google	rs727502818
pharmgkb	rs727502818
gwascentral	rs727502818
openSNP	rs727502818
23andMe	rs727502818
SNPshot	rs727502818
SNPdbe	rs727502818
MSV3d	rs727502818
GWAS Ctlg	rs727502818

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000149909.3,