rs1057517478

Orientation

minus

Stabilized

minus

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

Make rs1057517478(-;-)

Make rs1057517478(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92504895

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs1057517478
dbSNP (classic)	rs1057517478
ClinGen	rs1057517478
ebi	rs1057517478
HLI	rs1057517478
Exac	rs1057517478
Gnomad	rs1057517478
Varsome	rs1057517478
LitVar	rs1057517478
Map	rs1057517478
PheGenI	rs1057517478
Biobank	rs1057517478
1000 genomes	rs1057517478
hgdp	rs1057517478
ensembl	rs1057517478
geneview	rs1057517478
scholar	rs1057517478
google	rs1057517478
pharmgkb	rs1057517478
gwascentral	rs1057517478
openSNP	rs1057517478
23andMe	rs1057517478
SNPshot	rs1057517478
SNPdbe	rs1057517478
MSV3d	rs1057517478
GWAS Ctlg	rs1057517478

Max Magnitude

0

ClinVar
Risk	rs1057517478(-;-)
Alt	rs1057517478(-;-)
Reference	Rs1057517478(G;G)
Significance	Probable-Pathogenic
Disease	Zellweger syndrome Peroxisome biogenesis disorder 1B
Variation	info
Gene	PEX1
CLNDBN	Zellweger syndrome Peroxisome biogenesis disorder 1B
Reversed	1
HGVS	NC_000007.13:g.92134209delC
CLNSRC
CLNACC	RCV000410544.1, RCV000411204.1,