rs137852702

Orientation

minus

Stabilized

minus

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

Make rs137852702(A;A)

Make rs137852702(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

40092498

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs137852702
dbSNP (classic)	rs137852702
ClinGen	rs137852702
ebi	rs137852702
HLI	rs137852702
Exac	rs137852702
Gnomad	rs137852702
Varsome	rs137852702
LitVar	rs137852702
Map	rs137852702
PheGenI	rs137852702
Biobank	rs137852702
1000 genomes	rs137852702
hgdp	rs137852702
ensembl	rs137852702
geneview	rs137852702
scholar	rs137852702
google	rs137852702
pharmgkb	rs137852702
gwascentral	rs137852702
openSNP	rs137852702
23andMe	rs137852702
SNPshot	rs137852702
SNPdbe	rs137852702
MSV3d	rs137852702
GWAS Ctlg	rs137852702

Max Magnitude

0

OMIM	600722
Desc
Variant	0010
Related	also

ClinVar
Risk	rs137852702(A;A)
Alt	rs137852702(A;A)
Reference	Rs137852702(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.40558170C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009459.3,