rs137852700

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

1

Position

40089495

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs137852700
dbSNP (classic)	rs137852700
ClinGen	rs137852700
ebi	rs137852700
HLI	rs137852700
Exac	rs137852700
Gnomad	rs137852700
Varsome	rs137852700
LitVar	rs137852700
Map	rs137852700
PheGenI	rs137852700
Biobank	rs137852700
1000 genomes	rs137852700
hgdp	rs137852700
ensembl	rs137852700
geneview	rs137852700
scholar	rs137852700
google	rs137852700
pharmgkb	rs137852700
gwascentral	rs137852700
openSNP	rs137852700
23andMe	rs137852700
SNPshot	rs137852700
SNPdbe	rs137852700
MSV3d	rs137852700
GWAS Ctlg	rs137852700

Max Magnitude

5

OMIM	600722
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137852700(G;G) Rs137852700(T;T)
Alt	rs137852700(G;G) Rs137852700(T;T)
Reference	Rs137852700(C;C)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 1 not provided Neuronal Ceroid-Lipofuscinosis
Variation	info
Gene	PPT1
CLNDBN	Ceroid lipofuscinosis neuronal 1 not provided Neuronal Ceroid-Lipofuscinosis, Recessive
Reversed	1
HGVS	NC_000001.10:g.40555167G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009455.6, RCV000188718.3, RCV000352109.1,