rs727502785

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

66638956

Gene

KCTD7

is a	snp
is	mentioned by
dbSNP	rs727502785
dbSNP (classic)	rs727502785
ClinGen	rs727502785
ebi	rs727502785
HLI	rs727502785
Exac	rs727502785
Gnomad	rs727502785
Varsome	rs727502785
LitVar	rs727502785
Map	rs727502785
PheGenI	rs727502785
Biobank	rs727502785
1000 genomes	rs727502785
hgdp	rs727502785
ensembl	rs727502785
geneview	rs727502785
scholar	rs727502785
google	rs727502785
pharmgkb	rs727502785
gwascentral	rs727502785
openSNP	rs727502785
23andMe	rs727502785
SNPshot	rs727502785
SNPdbe	rs727502785
MSV3d	rs727502785
GWAS Ctlg	rs727502785

Max Magnitude

3

ClinVar
Risk	Rs727502785(-;-)
Alt	Rs727502785(-;-)
Reference	Rs727502785(C;C)
Significance	Pathogenic
Disease	Epilepsy
Variation	info
Gene	KCTD7
CLNDBN	Epilepsy, progressive myoclonic 3
Reversed	0
HGVS	NC_000007.13:g.66103943delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000030686.6,