rs1057517497

Orientation

minus

Stabilized

minus

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

Make rs1057517497(-;-)

Make rs1057517497(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92511004

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs1057517497
dbSNP (classic)	rs1057517497
ClinGen	rs1057517497
ebi	rs1057517497
HLI	rs1057517497
Exac	rs1057517497
Gnomad	rs1057517497
Varsome	rs1057517497
LitVar	rs1057517497
Map	rs1057517497
PheGenI	rs1057517497
Biobank	rs1057517497
1000 genomes	rs1057517497
hgdp	rs1057517497
ensembl	rs1057517497
geneview	rs1057517497
scholar	rs1057517497
google	rs1057517497
pharmgkb	rs1057517497
gwascentral	rs1057517497
openSNP	rs1057517497
23andMe	rs1057517497
SNPshot	rs1057517497
SNPdbe	rs1057517497
MSV3d	rs1057517497
GWAS Ctlg	rs1057517497

Max Magnitude

0

ClinVar
Risk	rs1057517497(-;-)
Alt	rs1057517497(-;-)
Reference	Rs1057517497(A;A)
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.92140318delT
CLNSRC
CLNACC	RCV000411168.1, RCV000412257.1,