rs1057516267

Orientation

minus

Stabilized

minus

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

Make rs1057516267(A;A)

Make rs1057516267(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

28482326

Gene

CLN3

is a	snp
is	mentioned by
dbSNP	rs1057516267
dbSNP (classic)	rs1057516267
ClinGen	rs1057516267
ebi	rs1057516267
HLI	rs1057516267
Exac	rs1057516267
Gnomad	rs1057516267
Varsome	rs1057516267
LitVar	rs1057516267
Map	rs1057516267
PheGenI	rs1057516267
Biobank	rs1057516267
1000 genomes	rs1057516267
hgdp	rs1057516267
ensembl	rs1057516267
geneview	rs1057516267
scholar	rs1057516267
google	rs1057516267
pharmgkb	rs1057516267
gwascentral	rs1057516267
openSNP	rs1057516267
23andMe	rs1057516267
SNPshot	rs1057516267
SNPdbe	rs1057516267
MSV3d	rs1057516267
GWAS Ctlg	rs1057516267

Max Magnitude

0

ClinVar
Risk	rs1057516267(A;A)
Alt	rs1057516267(A;A)
Reference	Rs1057516267(G;G)
Significance	Probable-Pathogenic
Disease	Juvenile neuronal ceroid lipofuscinosis
Variation	info
Gene	NPIPB8 CLN3
CLNDBN	Juvenile neuronal ceroid lipofuscinosis
Reversed	1
HGVS	NC_000016.9:g.28493647C>T
CLNSRC
CLNACC	RCV000409352.1,