rs137852883

Orientation

plus

Stabilized

plus

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

Make rs137852883(C;C)

Make rs137852883(C;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

1771142

Gene

CLN8

is a	snp
is	mentioned by
dbSNP	rs137852883
dbSNP (classic)	rs137852883
ClinGen	rs137852883
ebi	rs137852883
HLI	rs137852883
Exac	rs137852883
Gnomad	rs137852883
Varsome	rs137852883
LitVar	rs137852883
Map	rs137852883
PheGenI	rs137852883
Biobank	rs137852883
1000 genomes	rs137852883
hgdp	rs137852883
ensembl	rs137852883
geneview	rs137852883
scholar	rs137852883
google	rs137852883
pharmgkb	rs137852883
gwascentral	rs137852883
openSNP	rs137852883
23andMe	rs137852883
SNPshot	rs137852883
SNPdbe	rs137852883
MSV3d	rs137852883
GWAS Ctlg	rs137852883

Max Magnitude

0

OMIM	607837
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137852883(A;A) rs137852883(C;C) rs137852883(T;T)
Alt	rs137852883(A;A) rs137852883(C;C) rs137852883(T;T)
Reference	Rs137852883(G;G)
Significance	Pathogenic
Disease	not specified Ceroid lipofuscinosis neuronal 8
Variation	info
Gene	CLN8
CLNDBN	not specified Ceroid lipofuscinosis neuronal 8
Reversed	0
HGVS	NC_000008.10:g.1719308G>A; NC_000008.10:g.1719308G>C; NC_000008.10:g.1719308G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000433355.1, RCV000002940.2, RCV000478754.1,