rs878853323

Orientation

minus

Stabilized

minus

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

Make rs878853323(C;C)

Make rs878853323(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

1

Position

40092499

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs878853323
dbSNP (classic)	rs878853323
ClinGen	rs878853323
ebi	rs878853323
HLI	rs878853323
Exac	rs878853323
Gnomad	rs878853323
Varsome	rs878853323
LitVar	rs878853323
Map	rs878853323
PheGenI	rs878853323
Biobank	rs878853323
1000 genomes	rs878853323
hgdp	rs878853323
ensembl	rs878853323
geneview	rs878853323
scholar	rs878853323
google	rs878853323
pharmgkb	rs878853323
gwascentral	rs878853323
openSNP	rs878853323
23andMe	rs878853323
SNPshot	rs878853323
SNPdbe	rs878853323
MSV3d	rs878853323
GWAS Ctlg	rs878853323

Max Magnitude

0

ClinVar
Risk	rs878853323(C;C)
Alt	rs878853323(C;C)
Reference	Rs878853323(T;T)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 1
Variation	info
Gene	PPT1
CLNDBN	Ceroid lipofuscinosis neuronal 1
Reversed	1
HGVS	NC_000001.10:g.40558171A>G
CLNSRC	Institute of Human Genetics
CLNACC	RCV000225611.1,