rs1057517469

Orientation

minus

Stabilized

minus

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

Make rs1057517469(A;A)

Make rs1057517469(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92510943

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs1057517469
dbSNP (classic)	rs1057517469
ClinGen	rs1057517469
ebi	rs1057517469
HLI	rs1057517469
Exac	rs1057517469
Gnomad	rs1057517469
Varsome	rs1057517469
LitVar	rs1057517469
Map	rs1057517469
PheGenI	rs1057517469
Biobank	rs1057517469
1000 genomes	rs1057517469
hgdp	rs1057517469
ensembl	rs1057517469
geneview	rs1057517469
scholar	rs1057517469
google	rs1057517469
pharmgkb	rs1057517469
gwascentral	rs1057517469
openSNP	rs1057517469
23andMe	rs1057517469
SNPshot	rs1057517469
SNPdbe	rs1057517469
MSV3d	rs1057517469
GWAS Ctlg	rs1057517469

Max Magnitude

0

ClinVar
Risk	rs1057517469(A;A)
Alt	rs1057517469(A;A)
Reference	Rs1057517469(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.92140257C>T
CLNSRC
CLNACC	RCV000409309.1, RCV000411742.1,