rs1057517468

Orientation

minus

Stabilized

minus

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

Make rs1057517468(C;T)

Make rs1057517468(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92503130

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs1057517468
dbSNP (classic)	rs1057517468
ClinGen	rs1057517468
ebi	rs1057517468
HLI	rs1057517468
Exac	rs1057517468
Gnomad	rs1057517468
Varsome	rs1057517468
LitVar	rs1057517468
Map	rs1057517468
PheGenI	rs1057517468
Biobank	rs1057517468
1000 genomes	rs1057517468
hgdp	rs1057517468
ensembl	rs1057517468
geneview	rs1057517468
scholar	rs1057517468
google	rs1057517468
pharmgkb	rs1057517468
gwascentral	rs1057517468
openSNP	rs1057517468
23andMe	rs1057517468
SNPshot	rs1057517468
SNPdbe	rs1057517468
MSV3d	rs1057517468
GWAS Ctlg	rs1057517468

Max Magnitude

0

ClinVar
Risk	rs1057517468(T;T)
Alt	rs1057517468(T;T)
Reference	Rs1057517468(C;C)
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.92132444G>A
CLNSRC
CLNACC	RCV000410160.1, RCV000412134.1,