rs386833729

minus

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

Make rs386833729(-;-)

Make rs386833729(-;AG)

Reference

GRCh38 38.1/141

Chromosome

16

Position

28486465

Gene

CLN3

is a	snp
is	mentioned by
dbSNP	rs386833729
dbSNP (classic)	rs386833729
ClinGen	rs386833729
ebi	rs386833729
HLI	rs386833729
Exac	rs386833729
Gnomad	rs386833729
Varsome	rs386833729
LitVar	rs386833729
Map	rs386833729
PheGenI	rs386833729
Biobank	rs386833729
1000 genomes	rs386833729
hgdp	rs386833729
ensembl	rs386833729
geneview	rs386833729
scholar	rs386833729
google	rs386833729
pharmgkb	rs386833729
gwascentral	rs386833729
openSNP	rs386833729
23andMe	rs386833729
SNPshot	rs386833729
SNPdbe	rs386833729
MSV3d	rs386833729
GWAS Ctlg	rs386833729

Max Magnitude

0

ClinVar
Risk	rs386833729(-;-)
Alt	rs386833729(-;-)
Reference	Rs386833729(AG;AG)
Significance	Probable-Pathogenic
Disease	Juvenile neuronal ceroid lipofuscinosis
Variation	info
Gene	CLN3 NPIPB8
CLNDBN	Juvenile neuronal ceroid lipofuscinosis
Reversed	1
HGVS	NC_000016.9:g.28497786_28497787delCT
CLNSRC	ClinVar
CLNACC	RCV000049692.1,

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