rs28940575

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0
(T;T)	0	common in clinvar

Make rs28940575(A;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

18122531

Gene

NHLRC1

is a	snp
is	mentioned by
dbSNP	rs28940575
dbSNP (classic)	rs28940575
ClinGen	rs28940575
ebi	rs28940575
HLI	rs28940575
Exac	rs28940575
Gnomad	rs28940575
Varsome	rs28940575
LitVar	rs28940575
Map	rs28940575
PheGenI	rs28940575
Biobank	rs28940575
1000 genomes	rs28940575
hgdp	rs28940575
ensembl	rs28940575
geneview	rs28940575
scholar	rs28940575
google	rs28940575
pharmgkb	rs28940575
gwascentral	rs28940575
openSNP	rs28940575
23andMe	rs28940575
SNPshot	rs28940575
SNPdbe	rs28940575
MSV3d	rs28940575
GWAS Ctlg	rs28940575

Max Magnitude

0

OMIM	608072
Desc	EPILEPSY, PROGRESSIVE MYOCLONIC 2B
Variant	0001
Related	also

ClinVar
Risk	Rs28940575(A;A)
Alt	Rs28940575(A;A)
Reference	Rs28940575(T;T)
Significance	Pathogenic
Disease	Epilepsy Lafora disease not provided
Variation	info
Gene	NHLRC1
CLNDBN	Epilepsy, progressive myoclonic 2b Lafora disease not provided
Reversed	1
HGVS	NC_000006.11:g.18122762A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002704.4, RCV000192025.1, RCV000483691.1,