rs1057516677

Orientation

minus

Stabilized

minus

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

Make rs1057516677(A;A)

Make rs1057516677(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

28477875

Gene

CLN3

is a	snp
is	mentioned by
dbSNP	rs1057516677
dbSNP (classic)	rs1057516677
ClinGen	rs1057516677
ebi	rs1057516677
HLI	rs1057516677
Exac	rs1057516677
Gnomad	rs1057516677
Varsome	rs1057516677
LitVar	rs1057516677
Map	rs1057516677
PheGenI	rs1057516677
Biobank	rs1057516677
1000 genomes	rs1057516677
hgdp	rs1057516677
ensembl	rs1057516677
geneview	rs1057516677
scholar	rs1057516677
google	rs1057516677
pharmgkb	rs1057516677
gwascentral	rs1057516677
openSNP	rs1057516677
23andMe	rs1057516677
SNPshot	rs1057516677
SNPdbe	rs1057516677
MSV3d	rs1057516677
GWAS Ctlg	rs1057516677

Max Magnitude

0

ClinVar
Risk	rs1057516677(A;A)
Alt	rs1057516677(A;A)
Reference	Rs1057516677(C;C)
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.28489196G>T
CLNSRC
CLNACC	RCV000410540.1,