rs1057516575

Orientation

minus

Stabilized

minus

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

Make rs1057516575(-;T)

Make rs1057516575(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

40074160

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs1057516575
dbSNP (classic)	rs1057516575
ClinGen	rs1057516575
ebi	rs1057516575
HLI	rs1057516575
Exac	rs1057516575
Gnomad	rs1057516575
Varsome	rs1057516575
LitVar	rs1057516575
Map	rs1057516575
PheGenI	rs1057516575
Biobank	rs1057516575
1000 genomes	rs1057516575
hgdp	rs1057516575
ensembl	rs1057516575
geneview	rs1057516575
scholar	rs1057516575
google	rs1057516575
pharmgkb	rs1057516575
gwascentral	rs1057516575
openSNP	rs1057516575
23andMe	rs1057516575
SNPshot	rs1057516575
SNPdbe	rs1057516575
MSV3d	rs1057516575
GWAS Ctlg	rs1057516575

Max Magnitude

0

ClinVar
Risk	rs1057516575(T;T)
Alt	rs1057516575(T;T)
Reference	Rs1057516575(-;-)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 1
Variation	info
Gene	PPT1
CLNDBN	Ceroid lipofuscinosis neuronal 1
Reversed	1
HGVS	NC_000001.10:g.40539833dupA
CLNSRC
CLNACC	RCV000409710.1,