rs1057517531

Orientation

minus

Stabilized

minus

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

Make rs1057517531(A;G)

Make rs1057517531(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92494398

Gene	GATAD1, PEX1

is a	snp
is	mentioned by
dbSNP	rs1057517531
dbSNP (classic)	rs1057517531
ClinGen	rs1057517531
ebi	rs1057517531
HLI	rs1057517531
Exac	rs1057517531
Gnomad	rs1057517531
Varsome	rs1057517531
LitVar	rs1057517531
Map	rs1057517531
PheGenI	rs1057517531
Biobank	rs1057517531
1000 genomes	rs1057517531
hgdp	rs1057517531
ensembl	rs1057517531
geneview	rs1057517531
scholar	rs1057517531
google	rs1057517531
pharmgkb	rs1057517531
gwascentral	rs1057517531
openSNP	rs1057517531
23andMe	rs1057517531
SNPshot	rs1057517531
SNPdbe	rs1057517531
MSV3d	rs1057517531
GWAS Ctlg	rs1057517531

Max Magnitude

0

ClinVar
Risk	rs1057517531(G;G)
Alt	rs1057517531(G;G)
Reference	Rs1057517531(A;A)
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.92123712T>C
CLNSRC
CLNACC	RCV000410270.1, RCV000412213.1,