rs1057517049

Orientation

minus

Stabilized

minus

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

Make rs1057517049(-;ACTT)

Make rs1057517049(ACTT;ACTT)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

40092109

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs1057517049
dbSNP (classic)	rs1057517049
ClinGen	rs1057517049
ebi	rs1057517049
HLI	rs1057517049
Exac	rs1057517049
Gnomad	rs1057517049
Varsome	rs1057517049
LitVar	rs1057517049
Map	rs1057517049
PheGenI	rs1057517049
Biobank	rs1057517049
1000 genomes	rs1057517049
hgdp	rs1057517049
ensembl	rs1057517049
geneview	rs1057517049
scholar	rs1057517049
google	rs1057517049
pharmgkb	rs1057517049
gwascentral	rs1057517049
openSNP	rs1057517049
23andMe	rs1057517049
SNPshot	rs1057517049
SNPdbe	rs1057517049
MSV3d	rs1057517049
GWAS Ctlg	rs1057517049

Max Magnitude

0

ClinVar
Risk	rs1057517049(ACTT;ACTT)
Alt	rs1057517049(ACTT;ACTT)
Reference	Rs1057517049(-;-)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 1
Variation	info
Gene	PPT1
CLNDBN	Ceroid lipofuscinosis neuronal 1
Reversed	1
HGVS	NC_000001.10:g.40557782_40557785dupAAGT
CLNSRC
CLNACC	RCV000411589.1,