rs28940569

Orientation

plus

Stabilized

plus

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

Make rs28940569(C;C)

Make rs28940569(C;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

1780495

Gene

CLN8

is a	snp
is	mentioned by
dbSNP	rs28940569
dbSNP (classic)	rs28940569
ClinGen	rs28940569
ebi	rs28940569
HLI	rs28940569
Exac	rs28940569
Gnomad	rs28940569
Varsome	rs28940569
LitVar	rs28940569
Map	rs28940569
PheGenI	rs28940569
Biobank	rs28940569
1000 genomes	rs28940569
hgdp	rs28940569
ensembl	rs28940569
geneview	rs28940569
scholar	rs28940569
google	rs28940569
pharmgkb	rs28940569
gwascentral	rs28940569
openSNP	rs28940569
23andMe	rs28940569
SNPshot	rs28940569
SNPdbe	rs28940569
MSV3d	rs28940569
GWAS Ctlg	rs28940569

Max Magnitude

0

OMIM	607837
Desc	CEROID LIPOFUSCINOSIS, NEURONAL, 8
Variant	0002
Related	also

ClinVar
Risk	rs28940569(C;C)
Alt	rs28940569(C;C)
Reference	Rs28940569(G;G)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 8
Variation	info
Gene	CLN8
CLNDBN	Ceroid lipofuscinosis neuronal 8
Reversed	0
HGVS	NC_000008.10:g.1728661G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002937.2,