rs1057516343

Orientation

minus

Stabilized

minus

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

Make rs1057516343(A;A)

Make rs1057516343(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

28491713

Gene

CLN3

is a	snp
is	mentioned by
dbSNP	rs1057516343
dbSNP (classic)	rs1057516343
ClinGen	rs1057516343
ebi	rs1057516343
HLI	rs1057516343
Exac	rs1057516343
Gnomad	rs1057516343
Varsome	rs1057516343
LitVar	rs1057516343
Map	rs1057516343
PheGenI	rs1057516343
Biobank	rs1057516343
1000 genomes	rs1057516343
hgdp	rs1057516343
ensembl	rs1057516343
geneview	rs1057516343
scholar	rs1057516343
google	rs1057516343
pharmgkb	rs1057516343
gwascentral	rs1057516343
openSNP	rs1057516343
23andMe	rs1057516343
SNPshot	rs1057516343
SNPdbe	rs1057516343
MSV3d	rs1057516343
GWAS Ctlg	rs1057516343

Max Magnitude

0

ClinVar
Risk	rs1057516343(A;A)
Alt	rs1057516343(A;A)
Reference	Rs1057516343(G;G)
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.28503034C>T
CLNSRC
CLNACC	RCV000409491.1,