rs1057517368

Orientation

minus

Stabilized

minus

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

Make rs1057517368(A;A)

Make rs1057517368(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

40097113

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs1057517368
dbSNP (classic)	rs1057517368
ClinGen	rs1057517368
ebi	rs1057517368
HLI	rs1057517368
Exac	rs1057517368
Gnomad	rs1057517368
Varsome	rs1057517368
LitVar	rs1057517368
Map	rs1057517368
PheGenI	rs1057517368
Biobank	rs1057517368
1000 genomes	rs1057517368
hgdp	rs1057517368
ensembl	rs1057517368
geneview	rs1057517368
scholar	rs1057517368
google	rs1057517368
pharmgkb	rs1057517368
gwascentral	rs1057517368
openSNP	rs1057517368
23andMe	rs1057517368
SNPshot	rs1057517368
SNPdbe	rs1057517368
MSV3d	rs1057517368
GWAS Ctlg	rs1057517368

Max Magnitude

0

ClinVar
Risk	rs1057517368(A;A)
Alt	rs1057517368(A;A)
Reference	Rs1057517368(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.40562785A>T
CLNSRC
CLNACC	RCV000410017.1,