rs1057517500

Orientation

minus

Stabilized

minus

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

Make rs1057517500(A;G)

Make rs1057517500(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92518257

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs1057517500
dbSNP (classic)	rs1057517500
ClinGen	rs1057517500
ebi	rs1057517500
HLI	rs1057517500
Exac	rs1057517500
Gnomad	rs1057517500
Varsome	rs1057517500
LitVar	rs1057517500
Map	rs1057517500
PheGenI	rs1057517500
Biobank	rs1057517500
1000 genomes	rs1057517500
hgdp	rs1057517500
ensembl	rs1057517500
geneview	rs1057517500
scholar	rs1057517500
google	rs1057517500
pharmgkb	rs1057517500
gwascentral	rs1057517500
openSNP	rs1057517500
23andMe	rs1057517500
SNPshot	rs1057517500
SNPdbe	rs1057517500
MSV3d	rs1057517500
GWAS Ctlg	rs1057517500

Max Magnitude

0

ClinVar
Risk	rs1057517500(G;G)
Alt	rs1057517500(G;G)
Reference	Rs1057517500(A;A)
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.92147571T>C
CLNSRC
CLNACC	RCV000409764.1, RCV000410357.1,