rs387907263

Orientation

plus

Stabilized

plus

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

Make rs387907263(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

66638260

Gene

KCTD7

is a	snp
is	mentioned by
dbSNP	rs387907263
dbSNP (classic)	rs387907263
ClinGen	rs387907263
ebi	rs387907263
HLI	rs387907263
Exac	rs387907263
Gnomad	rs387907263
Varsome	rs387907263
LitVar	rs387907263
Map	rs387907263
PheGenI	rs387907263
Biobank	rs387907263
1000 genomes	rs387907263
hgdp	rs387907263
ensembl	rs387907263
geneview	rs387907263
scholar	rs387907263
google	rs387907263
pharmgkb	rs387907263
gwascentral	rs387907263
openSNP	rs387907263
23andMe	rs387907263
SNPshot	rs387907263
SNPdbe	rs387907263
MSV3d	rs387907263
GWAS Ctlg	rs387907263

Max Magnitude

3

ClinVar
Risk	rs387907263(A;A)
Alt	rs387907263(A;A)
Reference	Rs387907263(C;C)
Significance	Pathogenic
Disease	Epilepsy
Variation	info
Gene	KCTD7
CLNDBN	Epilepsy, progressive myoclonic 3
Reversed	0
HGVS	NC_000007.13:g.66103247C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030690.5,