rs1057517464

Orientation

minus

Stabilized

minus

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

Make rs1057517464(C;T)

Make rs1057517464(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92504882

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs1057517464
dbSNP (classic)	rs1057517464
ClinGen	rs1057517464
ebi	rs1057517464
HLI	rs1057517464
Exac	rs1057517464
Gnomad	rs1057517464
Varsome	rs1057517464
LitVar	rs1057517464
Map	rs1057517464
PheGenI	rs1057517464
Biobank	rs1057517464
1000 genomes	rs1057517464
hgdp	rs1057517464
ensembl	rs1057517464
geneview	rs1057517464
scholar	rs1057517464
google	rs1057517464
pharmgkb	rs1057517464
gwascentral	rs1057517464
openSNP	rs1057517464
23andMe	rs1057517464
SNPshot	rs1057517464
SNPdbe	rs1057517464
MSV3d	rs1057517464
GWAS Ctlg	rs1057517464

Max Magnitude

0

ClinVar
Risk	rs1057517464(T;T)
Alt	rs1057517464(T;T)
Reference	Rs1057517464(C;C)
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.92134196G>A
CLNSRC
CLNACC	RCV000410165.1, RCV000412147.1,