rs1057517480

Orientation

minus

Stabilized

minus

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

Make rs1057517480(G;T)

Make rs1057517480(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92489803

Gene	GATAD1, PEX1

is a	snp
is	mentioned by
dbSNP	rs1057517480
dbSNP (classic)	rs1057517480
ClinGen	rs1057517480
ebi	rs1057517480
HLI	rs1057517480
Exac	rs1057517480
Gnomad	rs1057517480
Varsome	rs1057517480
LitVar	rs1057517480
Map	rs1057517480
PheGenI	rs1057517480
Biobank	rs1057517480
1000 genomes	rs1057517480
hgdp	rs1057517480
ensembl	rs1057517480
geneview	rs1057517480
scholar	rs1057517480
google	rs1057517480
pharmgkb	rs1057517480
gwascentral	rs1057517480
openSNP	rs1057517480
23andMe	rs1057517480
SNPshot	rs1057517480
SNPdbe	rs1057517480
MSV3d	rs1057517480
GWAS Ctlg	rs1057517480

Max Magnitude

0

ClinVar
Risk	rs1057517480(T;T)
Alt	rs1057517480(T;T)
Reference	Rs1057517480(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.92119117C>A
CLNSRC
CLNACC	RCV000409825.1, RCV000411784.1,