rs1057516889

Orientation

minus

Stabilized

minus

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

Make rs1057516889(-;A)

Make rs1057516889(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

40078632

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs1057516889
dbSNP (classic)	rs1057516889
ClinGen	rs1057516889
ebi	rs1057516889
HLI	rs1057516889
Exac	rs1057516889
Gnomad	rs1057516889
Varsome	rs1057516889
LitVar	rs1057516889
Map	rs1057516889
PheGenI	rs1057516889
Biobank	rs1057516889
1000 genomes	rs1057516889
hgdp	rs1057516889
ensembl	rs1057516889
geneview	rs1057516889
scholar	rs1057516889
google	rs1057516889
pharmgkb	rs1057516889
gwascentral	rs1057516889
openSNP	rs1057516889
23andMe	rs1057516889
SNPshot	rs1057516889
SNPdbe	rs1057516889
MSV3d	rs1057516889
GWAS Ctlg	rs1057516889

Max Magnitude

0

ClinVar
Risk	rs1057516889(A;A)
Alt	rs1057516889(A;A)
Reference	Rs1057516889(-;-)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 1
Variation	info
Gene	PPT1
CLNDBN	Ceroid lipofuscinosis neuronal 1
Reversed	1
HGVS	NC_000001.10:g.40544305dupT
CLNSRC
CLNACC	RCV000411709.1,