rs1057517489

Orientation

minus

Stabilized

minus

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

Make rs1057517489(G;T)

Make rs1057517489(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92507032

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs1057517489
dbSNP (classic)	rs1057517489
ClinGen	rs1057517489
ebi	rs1057517489
HLI	rs1057517489
Exac	rs1057517489
Gnomad	rs1057517489
Varsome	rs1057517489
LitVar	rs1057517489
Map	rs1057517489
PheGenI	rs1057517489
Biobank	rs1057517489
1000 genomes	rs1057517489
hgdp	rs1057517489
ensembl	rs1057517489
geneview	rs1057517489
scholar	rs1057517489
google	rs1057517489
pharmgkb	rs1057517489
gwascentral	rs1057517489
openSNP	rs1057517489
23andMe	rs1057517489
SNPshot	rs1057517489
SNPdbe	rs1057517489
MSV3d	rs1057517489
GWAS Ctlg	rs1057517489

Max Magnitude

0

ClinVar
Risk	rs1057517489(T;T)
Alt	rs1057517489(T;T)
Reference	Rs1057517489(G;G)
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.92136346C>A
CLNSRC
CLNACC	RCV000409232.1, RCV000411702.1,