rs267607199

Orientation

plus

Stabilized

plus

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

Make rs267607199(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

66633425

Gene

KCTD7

is a	snp
is	mentioned by
dbSNP	rs267607199
dbSNP (classic)	rs267607199
ClinGen	rs267607199
ebi	rs267607199
HLI	rs267607199
Exac	rs267607199
Gnomad	rs267607199
Varsome	rs267607199
LitVar	rs267607199
Map	rs267607199
PheGenI	rs267607199
Biobank	rs267607199
1000 genomes	rs267607199
hgdp	rs267607199
ensembl	rs267607199
geneview	rs267607199
scholar	rs267607199
google	rs267607199
pharmgkb	rs267607199
gwascentral	rs267607199
openSNP	rs267607199
23andMe	rs267607199
SNPshot	rs267607199
SNPdbe	rs267607199
MSV3d	rs267607199
GWAS Ctlg	rs267607199

Max Magnitude

3

ClinVar
Risk	rs267607199(A;A) rs267607199(T;T)
Alt	rs267607199(A;A) rs267607199(T;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	RCV000000886.4,