rs1057517401

Orientation

minus

Stabilized

minus

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

Make rs1057517401(A;A)

Make rs1057517401(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

40092044

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs1057517401
dbSNP (classic)	rs1057517401
ClinGen	rs1057517401
ebi	rs1057517401
HLI	rs1057517401
Exac	rs1057517401
Gnomad	rs1057517401
Varsome	rs1057517401
LitVar	rs1057517401
Map	rs1057517401
PheGenI	rs1057517401
Biobank	rs1057517401
1000 genomes	rs1057517401
hgdp	rs1057517401
ensembl	rs1057517401
geneview	rs1057517401
scholar	rs1057517401
google	rs1057517401
pharmgkb	rs1057517401
gwascentral	rs1057517401
openSNP	rs1057517401
23andMe	rs1057517401
SNPshot	rs1057517401
SNPdbe	rs1057517401
MSV3d	rs1057517401
GWAS Ctlg	rs1057517401

Max Magnitude

0

ClinVar
Risk	rs1057517401(A;A)
Alt	rs1057517401(A;A)
Reference	Rs1057517401(G;G)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 1
Variation	info
Gene	PPT1
CLNDBN	Ceroid lipofuscinosis neuronal 1
Reversed	1
HGVS	NC_000001.10:g.40557716C>T
CLNSRC
CLNACC	RCV000410545.1,