rs587779397

Orientation

minus

Stabilized

minus

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

Make rs587779397(-;T)

Make rs587779397(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

28487664

Gene

CLN3

is a	snp
is	mentioned by
dbSNP	rs587779397
dbSNP (classic)	rs587779397
ClinGen	rs587779397
ebi	rs587779397
HLI	rs587779397
Exac	rs587779397
Gnomad	rs587779397
Varsome	rs587779397
LitVar	rs587779397
Map	rs587779397
PheGenI	rs587779397
Biobank	rs587779397
1000 genomes	rs587779397
hgdp	rs587779397
ensembl	rs587779397
geneview	rs587779397
scholar	rs587779397
google	rs587779397
pharmgkb	rs587779397
gwascentral	rs587779397
openSNP	rs587779397
23andMe	rs587779397
SNPshot	rs587779397
SNPdbe	rs587779397
MSV3d	rs587779397
GWAS Ctlg	rs587779397

Max Magnitude

0

ClinVar
Risk	rs587779397(T;T)
Alt	rs587779397(T;T)
Reference	Rs587779397(-;-)
Significance	Pathogenic
Disease	Juvenile neuronal ceroid lipofuscinosis
Variation	info
Gene	NPIPB8 CLN3
CLNDBN	Juvenile neuronal ceroid lipofuscinosis
Reversed	1
HGVS	NC_000016.9:g.28498985_28498986insA
CLNSRC
CLNACC	RCV000087084.1,