rs386834131

plus

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

Make rs386834131(C;T)

Make rs386834131(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

1771561

Gene

CLN8

is a	snp
is	mentioned by
dbSNP	rs386834131
dbSNP (classic)	rs386834131
ClinGen	rs386834131
ebi	rs386834131
HLI	rs386834131
Exac	rs386834131
Gnomad	rs386834131
Varsome	rs386834131
LitVar	rs386834131
Map	rs386834131
PheGenI	rs386834131
Biobank	rs386834131
1000 genomes	rs386834131
hgdp	rs386834131
ensembl	rs386834131
geneview	rs386834131
scholar	rs386834131
google	rs386834131
pharmgkb	rs386834131
gwascentral	rs386834131
openSNP	rs386834131
23andMe	rs386834131
SNPshot	rs386834131
SNPdbe	rs386834131
MSV3d	rs386834131
GWAS Ctlg	rs386834131

Max Magnitude

0

ClinVar
Risk	rs386834131(T;T)
Alt	rs386834131(T;T)
Reference	Rs386834131(C;C)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 8
Variation	info
Gene	CLN8
CLNDBN	Ceroid lipofuscinosis neuronal 8
Reversed	0
HGVS	NC_000008.10:g.1719727C>T
CLNSRC	ClinVar
CLNACC	RCV000050124.1,

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