rs137852696

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	3	Neuronal Ceroid Lipofuscinosis carrier
(C;C)	5	Neuronal Ceroid Lipofuscinosis

Reference

GRCh38 38.1/141

Chromosome

1

Position

40092409

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs137852696
dbSNP (classic)	rs137852696
ClinGen	rs137852696
ebi	rs137852696
HLI	rs137852696
Exac	rs137852696
Gnomad	rs137852696
Varsome	rs137852696
LitVar	rs137852696
Map	rs137852696
PheGenI	rs137852696
Biobank	rs137852696
1000 genomes	rs137852696
hgdp	rs137852696
ensembl	rs137852696
geneview	rs137852696
scholar	rs137852696
google	rs137852696
pharmgkb	rs137852696
gwascentral	rs137852696
openSNP	rs137852696
23andMe	rs137852696
SNPshot	rs137852696
SNPdbe	rs137852696
MSV3d	rs137852696
GWAS Ctlg	rs137852696

Max Magnitude

5

Neuronal ceroid lipofuscinosis (PPT1-related)

OMIM	600722
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs137852696(C;C)
Alt	Rs137852696(C;C)
Reference	Rs137852696(A;A)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 1 not provided
Variation	info
Gene	PPT1
CLNDBN	Ceroid lipofuscinosis neuronal 1 not provided
Reversed	1
HGVS	NC_000001.10:g.40558081T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009451.2, RCV000188709.1,