rs796052927

Orientation

minus

Stabilized

minus

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

Make rs796052927(C;C)

Make rs796052927(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

40097237

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs796052927
dbSNP (classic)	rs796052927
ClinGen	rs796052927
ebi	rs796052927
HLI	rs796052927
Exac	rs796052927
Gnomad	rs796052927
Varsome	rs796052927
LitVar	rs796052927
Map	rs796052927
PheGenI	rs796052927
Biobank	rs796052927
1000 genomes	rs796052927
hgdp	rs796052927
ensembl	rs796052927
geneview	rs796052927
scholar	rs796052927
google	rs796052927
pharmgkb	rs796052927
gwascentral	rs796052927
openSNP	rs796052927
23andMe	rs796052927
SNPshot	rs796052927
SNPdbe	rs796052927
MSV3d	rs796052927
GWAS Ctlg	rs796052927

Max Magnitude

0

ClinVar
Risk	rs796052927(C;C)
Alt	rs796052927(C;C)
Reference	Rs796052927(T;T)
Significance	Pathogenic
Disease	not provided Ceroid lipofuscinosis neuronal 1
Variation	info
Gene	PPT1
CLNDBN	not provided Ceroid lipofuscinosis neuronal 1
Reversed	1
HGVS	NC_000001.10:g.40562909A>G
CLNSRC
CLNACC	RCV000188725.2, RCV000410251.1,