rs1057517192

Orientation

minus

Stabilized

minus

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

Make rs1057517192(-;-)

Make rs1057517192(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

40092448

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs1057517192
dbSNP (classic)	rs1057517192
ClinGen	rs1057517192
ebi	rs1057517192
HLI	rs1057517192
Exac	rs1057517192
Gnomad	rs1057517192
Varsome	rs1057517192
LitVar	rs1057517192
Map	rs1057517192
PheGenI	rs1057517192
Biobank	rs1057517192
1000 genomes	rs1057517192
hgdp	rs1057517192
ensembl	rs1057517192
geneview	rs1057517192
scholar	rs1057517192
google	rs1057517192
pharmgkb	rs1057517192
gwascentral	rs1057517192
openSNP	rs1057517192
23andMe	rs1057517192
SNPshot	rs1057517192
SNPdbe	rs1057517192
MSV3d	rs1057517192
GWAS Ctlg	rs1057517192

Max Magnitude

0

ClinVar
Risk	rs1057517192(-;-)
Alt	rs1057517192(-;-)
Reference	Rs1057517192(A;A)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 1
Variation	info
Gene	PPT1
CLNDBN	Ceroid lipofuscinosis neuronal 1
Reversed	1
HGVS	NC_000001.10:g.40558120delT
CLNSRC
CLNACC	RCV000411460.1,