rs1057517476

Orientation

minus

Stabilized

minus

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

Make rs1057517476(C;C)

Make rs1057517476(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92522246

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs1057517476
dbSNP (classic)	rs1057517476
ClinGen	rs1057517476
ebi	rs1057517476
HLI	rs1057517476
Exac	rs1057517476
Gnomad	rs1057517476
Varsome	rs1057517476
LitVar	rs1057517476
Map	rs1057517476
PheGenI	rs1057517476
Biobank	rs1057517476
1000 genomes	rs1057517476
hgdp	rs1057517476
ensembl	rs1057517476
geneview	rs1057517476
scholar	rs1057517476
google	rs1057517476
pharmgkb	rs1057517476
gwascentral	rs1057517476
openSNP	rs1057517476
23andMe	rs1057517476
SNPshot	rs1057517476
SNPdbe	rs1057517476
MSV3d	rs1057517476
GWAS Ctlg	rs1057517476

Max Magnitude

0

ClinVar
Risk	rs1057517476(C;C)
Alt	rs1057517476(C;C)
Reference	Rs1057517476(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.92151560C>G
CLNSRC
CLNACC	RCV000411284.1, RCV000412347.1,