rs1057517486

Orientation

minus

Stabilized

minus

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

Make rs1057517486(-;AGCCATC)

Make rs1057517486(AGCCATC;AGCCATC)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92504832

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs1057517486
dbSNP (classic)	rs1057517486
ClinGen	rs1057517486
ebi	rs1057517486
HLI	rs1057517486
Exac	rs1057517486
Gnomad	rs1057517486
Varsome	rs1057517486
LitVar	rs1057517486
Map	rs1057517486
PheGenI	rs1057517486
Biobank	rs1057517486
1000 genomes	rs1057517486
hgdp	rs1057517486
ensembl	rs1057517486
geneview	rs1057517486
scholar	rs1057517486
google	rs1057517486
pharmgkb	rs1057517486
gwascentral	rs1057517486
openSNP	rs1057517486
23andMe	rs1057517486
SNPshot	rs1057517486
SNPdbe	rs1057517486
MSV3d	rs1057517486
GWAS Ctlg	rs1057517486

Max Magnitude

0

ClinVar
Risk	rs1057517486(AGCCATC;AGCCATC)
Alt	rs1057517486(AGCCATC;AGCCATC)
Reference	Rs1057517486(-;-)
Significance	Probable-Pathogenic
Disease	Peroxisome biogenesis disorder 1B Zellweger syndrome
Variation	info
Gene	PEX1
CLNDBN	Peroxisome biogenesis disorder 1B Zellweger syndrome
Reversed	1
HGVS	NC_000007.13:g.92134147_92134153dupGATGGCT
CLNSRC
CLNACC	RCV000410249.1, RCV000412254.1,