rs1057517350

Orientation

minus

Stabilized

minus

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

Make rs1057517350(A;A)

Make rs1057517350(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

28482673

Gene

CLN3

is a	snp
is	mentioned by
dbSNP	rs1057517350
dbSNP (classic)	rs1057517350
ClinGen	rs1057517350
ebi	rs1057517350
HLI	rs1057517350
Exac	rs1057517350
Gnomad	rs1057517350
Varsome	rs1057517350
LitVar	rs1057517350
Map	rs1057517350
PheGenI	rs1057517350
Biobank	rs1057517350
1000 genomes	rs1057517350
hgdp	rs1057517350
ensembl	rs1057517350
geneview	rs1057517350
scholar	rs1057517350
google	rs1057517350
pharmgkb	rs1057517350
gwascentral	rs1057517350
openSNP	rs1057517350
23andMe	rs1057517350
SNPshot	rs1057517350
SNPdbe	rs1057517350
MSV3d	rs1057517350
GWAS Ctlg	rs1057517350

Max Magnitude

0

ClinVar
Risk	rs1057517350(A;A)
Alt	rs1057517350(A;A)
Reference	Rs1057517350(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.28493994C>T
CLNSRC
CLNACC	RCV000412040.1,