rs1057517487

Orientation

minus

Stabilized

minus

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

Make rs1057517487(A;A)

Make rs1057517487(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92519004

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs1057517487
dbSNP (classic)	rs1057517487
ClinGen	rs1057517487
ebi	rs1057517487
HLI	rs1057517487
Exac	rs1057517487
Gnomad	rs1057517487
Varsome	rs1057517487
LitVar	rs1057517487
Map	rs1057517487
PheGenI	rs1057517487
Biobank	rs1057517487
1000 genomes	rs1057517487
hgdp	rs1057517487
ensembl	rs1057517487
geneview	rs1057517487
scholar	rs1057517487
google	rs1057517487
pharmgkb	rs1057517487
gwascentral	rs1057517487
openSNP	rs1057517487
23andMe	rs1057517487
SNPshot	rs1057517487
SNPdbe	rs1057517487
MSV3d	rs1057517487
GWAS Ctlg	rs1057517487

Max Magnitude

0

ClinVar
Risk	rs1057517487(A;A)
Alt	rs1057517487(A;A)
Reference	Rs1057517487(G;G)
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.92148318C>T
CLNSRC
CLNACC	RCV000409324.1, RCV000411341.1,