rs1057517112

Orientation

minus

Stabilized

minus

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

Make rs1057517112(-;-)

Make rs1057517112(-;ATGGACC)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

40097185

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs1057517112
dbSNP (classic)	rs1057517112
ClinGen	rs1057517112
ebi	rs1057517112
HLI	rs1057517112
Exac	rs1057517112
Gnomad	rs1057517112
Varsome	rs1057517112
LitVar	rs1057517112
Map	rs1057517112
PheGenI	rs1057517112
Biobank	rs1057517112
1000 genomes	rs1057517112
hgdp	rs1057517112
ensembl	rs1057517112
geneview	rs1057517112
scholar	rs1057517112
google	rs1057517112
pharmgkb	rs1057517112
gwascentral	rs1057517112
openSNP	rs1057517112
23andMe	rs1057517112
SNPshot	rs1057517112
SNPdbe	rs1057517112
MSV3d	rs1057517112
GWAS Ctlg	rs1057517112

Max Magnitude

0

ClinVar
Risk	rs1057517112(-;-)
Alt	rs1057517112(-;-)
Reference	Rs1057517112(ATGGACC;ATGGACC)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 1
Variation	info
Gene	PPT1
CLNDBN	Ceroid lipofuscinosis neuronal 1
Reversed	1
HGVS	NC_000001.10:g.40562857_40562863delGGTCCAT
CLNSRC
CLNACC	RCV000411788.1,