rs386834123

plus

Geno	Mag	Summary
(AGA;AGA)	0	common in clinvar
(GAA;GAA)	0	common in clinvar

Make rs386834123(-;-)

Make rs386834123(-;GAA)

Reference

GRCh38 38.1/141

Chromosome

8

Position

1771234

Gene

CLN8

is a	snp
is	mentioned by
dbSNP	rs386834123
dbSNP (classic)	rs386834123
ClinGen	rs386834123
ebi	rs386834123
HLI	rs386834123
Exac	rs386834123
Gnomad	rs386834123
Varsome	rs386834123
LitVar	rs386834123
Map	rs386834123
PheGenI	rs386834123
Biobank	rs386834123
1000 genomes	rs386834123
hgdp	rs386834123
ensembl	rs386834123
geneview	rs386834123
scholar	rs386834123
google	rs386834123
pharmgkb	rs386834123
gwascentral	rs386834123
openSNP	rs386834123
23andMe	rs386834123
SNPshot	rs386834123
SNPdbe	rs386834123
MSV3d	rs386834123
GWAS Ctlg	rs386834123

Max Magnitude

0

ClinVar
Risk	rs386834123(-;-)
Alt	rs386834123(-;-)
Reference	Rs386834123(AGA;AGA)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 8
Variation	info
Gene	CLN8
CLNDBN	Ceroid lipofuscinosis neuronal 8
Reversed	0
HGVS	NC_000008.10:g.1719400_1719402delGAA
CLNSRC	ClinVar
CLNACC	RCV000050116.1,

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