rs1057517287

Orientation

minus

Stabilized

minus

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

Make rs1057517287(G;T)

Make rs1057517287(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

28486346

Gene

CLN3

is a	snp
is	mentioned by
dbSNP	rs1057517287
dbSNP (classic)	rs1057517287
ClinGen	rs1057517287
ebi	rs1057517287
HLI	rs1057517287
Exac	rs1057517287
Gnomad	rs1057517287
Varsome	rs1057517287
LitVar	rs1057517287
Map	rs1057517287
PheGenI	rs1057517287
Biobank	rs1057517287
1000 genomes	rs1057517287
hgdp	rs1057517287
ensembl	rs1057517287
geneview	rs1057517287
scholar	rs1057517287
google	rs1057517287
pharmgkb	rs1057517287
gwascentral	rs1057517287
openSNP	rs1057517287
23andMe	rs1057517287
SNPshot	rs1057517287
SNPdbe	rs1057517287
MSV3d	rs1057517287
GWAS Ctlg	rs1057517287

Max Magnitude

0

ClinVar
Risk	rs1057517287(T;T)
Alt	rs1057517287(T;T)
Reference	Rs1057517287(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.28497667C>A
CLNSRC
CLNACC	RCV000410679.1,