rs1057517470

Orientation

minus

Stabilized

minus

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

Make rs1057517470(C;T)

Make rs1057517470(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92499805

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs1057517470
dbSNP (classic)	rs1057517470
ClinGen	rs1057517470
ebi	rs1057517470
HLI	rs1057517470
Exac	rs1057517470
Gnomad	rs1057517470
Varsome	rs1057517470
LitVar	rs1057517470
Map	rs1057517470
PheGenI	rs1057517470
Biobank	rs1057517470
1000 genomes	rs1057517470
hgdp	rs1057517470
ensembl	rs1057517470
geneview	rs1057517470
scholar	rs1057517470
google	rs1057517470
pharmgkb	rs1057517470
gwascentral	rs1057517470
openSNP	rs1057517470
23andMe	rs1057517470
SNPshot	rs1057517470
SNPdbe	rs1057517470
MSV3d	rs1057517470
GWAS Ctlg	rs1057517470

Max Magnitude

0

ClinVar
Risk	rs1057517470(T;T)
Alt	rs1057517470(T;T)
Reference	Rs1057517470(C;C)
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.92129119G>A
CLNSRC
CLNACC	RCV000409499.1, RCV000411020.1,