rs137852701

Orientation

minus

Stabilized

minus

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

Make rs137852701(C;C)

Make rs137852701(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

40092085

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs137852701
dbSNP (classic)	rs137852701
ClinGen	rs137852701
ebi	rs137852701
HLI	rs137852701
Exac	rs137852701
Gnomad	rs137852701
Varsome	rs137852701
LitVar	rs137852701
Map	rs137852701
PheGenI	rs137852701
Biobank	rs137852701
1000 genomes	rs137852701
hgdp	rs137852701
ensembl	rs137852701
geneview	rs137852701
scholar	rs137852701
google	rs137852701
pharmgkb	rs137852701
gwascentral	rs137852701
openSNP	rs137852701
23andMe	rs137852701
SNPshot	rs137852701
SNPdbe	rs137852701
MSV3d	rs137852701
GWAS Ctlg	rs137852701

Max Magnitude

0

OMIM	600722
Desc
Variant	0009
Related	also

ClinVar
Risk	rs137852701(C;C)
Alt	rs137852701(C;C)
Reference	Rs137852701(G;G)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 1
Variation	info
Gene	PPT1
CLNDBN	Ceroid lipofuscinosis neuronal 1
Reversed	1
HGVS	NC_000001.10:g.40557757C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009458.2,