rs137852697

Orientation

minus

Stabilized

minus

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

Make rs137852697(A;G)

Make rs137852697(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

40092171

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs137852697
dbSNP (classic)	rs137852697
ClinGen	rs137852697
ebi	rs137852697
HLI	rs137852697
Exac	rs137852697
Gnomad	rs137852697
Varsome	rs137852697
LitVar	rs137852697
Map	rs137852697
PheGenI	rs137852697
Biobank	rs137852697
1000 genomes	rs137852697
hgdp	rs137852697
ensembl	rs137852697
geneview	rs137852697
scholar	rs137852697
google	rs137852697
pharmgkb	rs137852697
gwascentral	rs137852697
openSNP	rs137852697
23andMe	rs137852697
SNPshot	rs137852697
SNPdbe	rs137852697
MSV3d	rs137852697
GWAS Ctlg	rs137852697

Max Magnitude

0

OMIM	600722
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137852697(G;G)
Alt	rs137852697(G;G)
Reference	Rs137852697(A;A)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 1
Variation	info
Gene	PPT1
CLNDBN	Ceroid lipofuscinosis neuronal 1
Reversed	1
HGVS	NC_000001.10:g.40557843T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009452.3,