rs587776542

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CT;CT)	0	common in clinvar

Make rs587776542(-;-)

Make rs587776542(-;CT)

Reference

GRCh38 38.1/142

Chromosome

6

Position

18122138

Gene

NHLRC1

is a	snp
is	mentioned by
dbSNP	rs587776542
dbSNP (classic)	rs587776542
ClinGen	rs587776542
ebi	rs587776542
HLI	rs587776542
Exac	rs587776542
Gnomad	rs587776542
Varsome	rs587776542
LitVar	rs587776542
Map	rs587776542
PheGenI	rs587776542
Biobank	rs587776542
1000 genomes	rs587776542
hgdp	rs587776542
ensembl	rs587776542
geneview	rs587776542
scholar	rs587776542
google	rs587776542
pharmgkb	rs587776542
gwascentral	rs587776542
openSNP	rs587776542
23andMe	rs587776542
SNPshot	rs587776542
SNPdbe	rs587776542
MSV3d	rs587776542
GWAS Ctlg	rs587776542

Max Magnitude

0

ClinVar
Risk	rs587776542(-;-)
Alt	rs587776542(-;-)
Reference	Rs587776542(CT;CT)
Significance	Pathogenic
Disease	Epilepsy not provided Lafora disease
Variation	info
Gene	NHLRC1
CLNDBN	Epilepsy, progressive myoclonic 2b not provided Lafora disease
Reversed	0
HGVS	NC_000006.11:g.18122369_18122370delCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002706.5, RCV000188221.1, RCV000192029.2,