rs1057517481

Orientation

minus

Stabilized

minus

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

Make rs1057517481(C;T)

Make rs1057517481(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92494538

Gene	GATAD1, PEX1

is a	snp
is	mentioned by
dbSNP	rs1057517481
dbSNP (classic)	rs1057517481
ClinGen	rs1057517481
ebi	rs1057517481
HLI	rs1057517481
Exac	rs1057517481
Gnomad	rs1057517481
Varsome	rs1057517481
LitVar	rs1057517481
Map	rs1057517481
PheGenI	rs1057517481
Biobank	rs1057517481
1000 genomes	rs1057517481
hgdp	rs1057517481
ensembl	rs1057517481
geneview	rs1057517481
scholar	rs1057517481
google	rs1057517481
pharmgkb	rs1057517481
gwascentral	rs1057517481
openSNP	rs1057517481
23andMe	rs1057517481
SNPshot	rs1057517481
SNPdbe	rs1057517481
MSV3d	rs1057517481
GWAS Ctlg	rs1057517481

Max Magnitude

0

ClinVar
Risk	rs1057517481(T;T)
Alt	rs1057517481(T;T)
Reference	Rs1057517481(C;C)
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.92123852G>A
CLNSRC
CLNACC	RCV000410455.1, RCV000411996.1,