rs1057517479

Orientation

minus

Stabilized

minus

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

Make rs1057517479(G;T)

Make rs1057517479(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92518256

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs1057517479
dbSNP (classic)	rs1057517479
ClinGen	rs1057517479
ebi	rs1057517479
HLI	rs1057517479
Exac	rs1057517479
Gnomad	rs1057517479
Varsome	rs1057517479
LitVar	rs1057517479
Map	rs1057517479
PheGenI	rs1057517479
Biobank	rs1057517479
1000 genomes	rs1057517479
hgdp	rs1057517479
ensembl	rs1057517479
geneview	rs1057517479
scholar	rs1057517479
google	rs1057517479
pharmgkb	rs1057517479
gwascentral	rs1057517479
openSNP	rs1057517479
23andMe	rs1057517479
SNPshot	rs1057517479
SNPdbe	rs1057517479
MSV3d	rs1057517479
GWAS Ctlg	rs1057517479

Max Magnitude

0

ClinVar
Risk	rs1057517479(T;T)
Alt	rs1057517479(T;T)
Reference	Rs1057517479(G;G)
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.92147570C>A
CLNSRC
CLNACC	RCV000409170.1, RCV000410312.1,