rs28940576

Orientation

minus

Stabilized

minus

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

Make rs28940576(C;G)

Make rs28940576(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

18122402

Gene

NHLRC1

is a	snp
is	mentioned by
dbSNP	rs28940576
dbSNP (classic)	rs28940576
ClinGen	rs28940576
ebi	rs28940576
HLI	rs28940576
Exac	rs28940576
Gnomad	rs28940576
Varsome	rs28940576
LitVar	rs28940576
Map	rs28940576
PheGenI	rs28940576
Biobank	rs28940576
1000 genomes	rs28940576
hgdp	rs28940576
ensembl	rs28940576
geneview	rs28940576
scholar	rs28940576
google	rs28940576
pharmgkb	rs28940576
gwascentral	rs28940576
openSNP	rs28940576
23andMe	rs28940576
SNPshot	rs28940576
SNPdbe	rs28940576
MSV3d	rs28940576
GWAS Ctlg	rs28940576

Max Magnitude

0

OMIM	608072
Desc	EPILEPSY, PROGRESSIVE MYOCLONIC 2B
Variant	0002
Related	also

ClinVar
Risk	rs28940576(G;G)
Alt	rs28940576(G;G)
Reference	Rs28940576(C;C)
Significance	Pathogenic
Disease	Epilepsy not provided Lafora disease
Variation	info
Gene	NHLRC1
CLNDBN	Epilepsy, progressive myoclonic 2b not provided Lafora disease
Reversed	1
HGVS	NC_000006.11:g.18122633G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002705.4, RCV000188208.1, RCV000192026.1,