rs1028247729

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92522246

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs1028247729
dbSNP (classic)	rs1028247729
ClinGen	rs1028247729
ebi	rs1028247729
HLI	rs1028247729
Exac	rs1028247729
Gnomad	rs1028247729
Varsome	rs1028247729
LitVar	rs1028247729
Map	rs1028247729
PheGenI	rs1028247729
Biobank	rs1028247729
1000 genomes	rs1028247729
hgdp	rs1028247729
ensembl	rs1028247729
geneview	rs1028247729
scholar	rs1028247729
google	rs1028247729
pharmgkb	rs1028247729
gwascentral	rs1028247729
openSNP	rs1028247729
23andMe	rs1028247729
SNPshot	rs1028247729
SNPdbe	rs1028247729
MSV3d	rs1028247729
GWAS Ctlg	rs1028247729

Max Magnitude

0

ClinVar
Risk	rs1028247729(A;A)
Alt	rs1028247729(A;A)
Reference	Rs1028247729(C;C)
Significance	Probable-Pathogenic
Disease	Zellweger syndrome Peroxisome biogenesis disorder 1B
Variation	info
Gene
CLNDBN	Zellweger syndrome Peroxisome biogenesis disorder 1B
Reversed	0
HGVS	NC_000007.13:g.92151560C>G
CLNSRC
CLNACC	RCV000411284.1, RCV000412347.1,