rs104894064

Orientation

plus

Stabilized

plus

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

Make rs104894064(C;G)

Make rs104894064(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

1771124

Gene

CLN8

is a	snp
is	mentioned by
dbSNP	rs104894064
dbSNP (classic)	rs104894064
ClinGen	rs104894064
ebi	rs104894064
HLI	rs104894064
Exac	rs104894064
Gnomad	rs104894064
Varsome	rs104894064
LitVar	rs104894064
Map	rs104894064
PheGenI	rs104894064
Biobank	rs104894064
1000 genomes	rs104894064
hgdp	rs104894064
ensembl	rs104894064
geneview	rs104894064
scholar	rs104894064
google	rs104894064
pharmgkb	rs104894064
gwascentral	rs104894064
openSNP	rs104894064
23andMe	rs104894064
SNPshot	rs104894064
SNPdbe	rs104894064
MSV3d	rs104894064
GWAS Ctlg	rs104894064

Max Magnitude

0

OMIM	607837
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894064(G;G) rs104894064(T;T)
Alt	rs104894064(G;G) rs104894064(T;T)
Reference	Rs104894064(C;C)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis Ceroid lipofuscinosis neuronal 8
Variation	info
Gene	CLN8
CLNDBN	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant Ceroid lipofuscinosis neuronal 8
Reversed	0
HGVS	NC_000008.10:g.1719290C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002936.2, RCV000409951.1,