rs386834137

plus

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

Make rs386834137(-;-)

Make rs386834137(-;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

1771120

Gene

CLN8

is a	snp
is	mentioned by
dbSNP	rs386834137
dbSNP (classic)	rs386834137
ClinGen	rs386834137
ebi	rs386834137
HLI	rs386834137
Exac	rs386834137
Gnomad	rs386834137
Varsome	rs386834137
LitVar	rs386834137
Map	rs386834137
PheGenI	rs386834137
Biobank	rs386834137
1000 genomes	rs386834137
hgdp	rs386834137
ensembl	rs386834137
geneview	rs386834137
scholar	rs386834137
google	rs386834137
pharmgkb	rs386834137
gwascentral	rs386834137
openSNP	rs386834137
23andMe	rs386834137
SNPshot	rs386834137
SNPdbe	rs386834137
MSV3d	rs386834137
GWAS Ctlg	rs386834137

Max Magnitude

0

ClinVar
Risk	rs386834137(-;-)
Alt	rs386834137(-;-)
Reference	Rs386834137(G;G)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 8
Variation	info
Gene	CLN8
CLNDBN	Ceroid lipofuscinosis neuronal 8
Reversed	0
HGVS	NC_000008.10:g.1719286delG
CLNSRC	ClinVar
CLNACC	RCV000050131.1,

[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.