rs137852695

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

40091398

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs137852695
dbSNP (classic)	rs137852695
ClinGen	rs137852695
ebi	rs137852695
HLI	rs137852695
Exac	rs137852695
Gnomad	rs137852695
Varsome	rs137852695
LitVar	rs137852695
Map	rs137852695
PheGenI	rs137852695
Biobank	rs137852695
1000 genomes	rs137852695
hgdp	rs137852695
ensembl	rs137852695
geneview	rs137852695
scholar	rs137852695
google	rs137852695
pharmgkb	rs137852695
gwascentral	rs137852695
openSNP	rs137852695
23andMe	rs137852695
SNPshot	rs137852695
SNPdbe	rs137852695
MSV3d	rs137852695
GWAS Ctlg	rs137852695

GMAF

0.001377

Max Magnitude

5

Neuronal ceroid lipofuscinosis (PPT1-related)

OMIM	600722
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs137852695(T;T)
Alt	Rs137852695(T;T)
Reference	Rs137852695(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.40557070T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009450.2, RCV000188724.2,