rs387907260

Orientation

plus

Stabilized

plus

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

Make rs387907260(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

66633410

Gene

KCTD7

is a	snp
is	mentioned by
dbSNP	rs387907260
dbSNP (classic)	rs387907260
ClinGen	rs387907260
ebi	rs387907260
HLI	rs387907260
Exac	rs387907260
Gnomad	rs387907260
Varsome	rs387907260
LitVar	rs387907260
Map	rs387907260
PheGenI	rs387907260
Biobank	rs387907260
1000 genomes	rs387907260
hgdp	rs387907260
ensembl	rs387907260
geneview	rs387907260
scholar	rs387907260
google	rs387907260
pharmgkb	rs387907260
gwascentral	rs387907260
openSNP	rs387907260
23andMe	rs387907260
SNPshot	rs387907260
SNPdbe	rs387907260
MSV3d	rs387907260
GWAS Ctlg	rs387907260

Max Magnitude

3

ClinVar
Risk	rs387907260(T;T)
Alt	rs387907260(T;T)
Reference	Rs387907260(C;C)
Significance	Pathogenic
Disease	Epilepsy
Variation	info
Gene	KCTD7
CLNDBN	Epilepsy, progressive myoclonic 3
Reversed	0
HGVS	NC_000007.13:g.66098397C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030687.4,