rs1057516447

Orientation

minus

Stabilized

minus

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

Make rs1057516447(A;A)

Make rs1057516447(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

40092080

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs1057516447
dbSNP (classic)	rs1057516447
ClinGen	rs1057516447
ebi	rs1057516447
HLI	rs1057516447
Exac	rs1057516447
Gnomad	rs1057516447
Varsome	rs1057516447
LitVar	rs1057516447
Map	rs1057516447
PheGenI	rs1057516447
Biobank	rs1057516447
1000 genomes	rs1057516447
hgdp	rs1057516447
ensembl	rs1057516447
geneview	rs1057516447
scholar	rs1057516447
google	rs1057516447
pharmgkb	rs1057516447
gwascentral	rs1057516447
openSNP	rs1057516447
23andMe	rs1057516447
SNPshot	rs1057516447
SNPdbe	rs1057516447
MSV3d	rs1057516447
GWAS Ctlg	rs1057516447

Max Magnitude

0

ClinVar
Risk	rs1057516447(A;A)
Alt	rs1057516447(A;A)
Reference	Rs1057516447(C;C)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 1
Variation	info
Gene	PPT1
CLNDBN	Ceroid lipofuscinosis neuronal 1
Reversed	1
HGVS	NC_000001.10:g.40557752G>T
CLNSRC
CLNACC	RCV000409057.1,