rs1057517485

Orientation

minus

Stabilized

minus

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

Make rs1057517485(C;T)

Make rs1057517485(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92499736

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs1057517485
dbSNP (classic)	rs1057517485
ClinGen	rs1057517485
ebi	rs1057517485
HLI	rs1057517485
Exac	rs1057517485
Gnomad	rs1057517485
Varsome	rs1057517485
LitVar	rs1057517485
Map	rs1057517485
PheGenI	rs1057517485
Biobank	rs1057517485
1000 genomes	rs1057517485
hgdp	rs1057517485
ensembl	rs1057517485
geneview	rs1057517485
scholar	rs1057517485
google	rs1057517485
pharmgkb	rs1057517485
gwascentral	rs1057517485
openSNP	rs1057517485
23andMe	rs1057517485
SNPshot	rs1057517485
SNPdbe	rs1057517485
MSV3d	rs1057517485
GWAS Ctlg	rs1057517485

Max Magnitude

0

ClinVar
Risk	rs1057517485(T;T)
Alt	rs1057517485(T;T)
Reference	Rs1057517485(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.92129050G>A
CLNSRC
CLNACC	RCV000409416.1, RCV000411881.1,