rs137852859

Orientation

minus

Stabilized

minus

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

Make rs137852859(A;C)

Make rs137852859(C;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

18121684

Gene

NHLRC1

is a	snp
is	mentioned by
dbSNP	rs137852859
dbSNP (classic)	rs137852859
ClinGen	rs137852859
ebi	rs137852859
HLI	rs137852859
Exac	rs137852859
Gnomad	rs137852859
Varsome	rs137852859
LitVar	rs137852859
Map	rs137852859
PheGenI	rs137852859
Biobank	rs137852859
1000 genomes	rs137852859
hgdp	rs137852859
ensembl	rs137852859
geneview	rs137852859
scholar	rs137852859
google	rs137852859
pharmgkb	rs137852859
gwascentral	rs137852859
openSNP	rs137852859
23andMe	rs137852859
SNPshot	rs137852859
SNPdbe	rs137852859
MSV3d	rs137852859
GWAS Ctlg	rs137852859

Max Magnitude

0

OMIM	608072
Desc
Variant	0007
Related	also

ClinVar
Risk	rs137852859(C;C)
Alt	rs137852859(C;C)
Reference	Rs137852859(A;A)
Significance	Pathogenic
Disease	Epilepsy
Variation	info
Gene	NHLRC1
CLNDBN	Epilepsy, progressive myoclonic 2b
Reversed	1
HGVS	NC_000006.11:g.18121915T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002710.4,