rs387907261

Orientation

plus

Stabilized

plus

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

Make rs387907261(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

66639180

Gene

KCTD7

is a	snp
is	mentioned by
dbSNP	rs387907261
dbSNP (classic)	rs387907261
ClinGen	rs387907261
ebi	rs387907261
HLI	rs387907261
Exac	rs387907261
Gnomad	rs387907261
Varsome	rs387907261
LitVar	rs387907261
Map	rs387907261
PheGenI	rs387907261
Biobank	rs387907261
1000 genomes	rs387907261
hgdp	rs387907261
ensembl	rs387907261
geneview	rs387907261
scholar	rs387907261
google	rs387907261
pharmgkb	rs387907261
gwascentral	rs387907261
openSNP	rs387907261
23andMe	rs387907261
SNPshot	rs387907261
SNPdbe	rs387907261
MSV3d	rs387907261
GWAS Ctlg	rs387907261

Max Magnitude

3

ClinVar
Risk	rs387907261(T;T)
Alt	rs387907261(T;T)
Reference	Rs387907261(A;A)
Significance	Pathogenic
Disease	Epilepsy
Variation	info
Gene	KCTD7
CLNDBN	Epilepsy, progressive myoclonic 3
Reversed	0
HGVS	NC_000007.13:g.66104167A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030688.5,