rs1057517518

Orientation

minus

Stabilized

minus

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

Make rs1057517518(A;A)

Make rs1057517518(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

92491503

Gene	GATAD1, PEX1

is a	snp
is	mentioned by
dbSNP	rs1057517518
dbSNP (classic)	rs1057517518
ClinGen	rs1057517518
ebi	rs1057517518
HLI	rs1057517518
Exac	rs1057517518
Gnomad	rs1057517518
Varsome	rs1057517518
LitVar	rs1057517518
Map	rs1057517518
PheGenI	rs1057517518
Biobank	rs1057517518
1000 genomes	rs1057517518
hgdp	rs1057517518
ensembl	rs1057517518
geneview	rs1057517518
scholar	rs1057517518
google	rs1057517518
pharmgkb	rs1057517518
gwascentral	rs1057517518
openSNP	rs1057517518
23andMe	rs1057517518
SNPshot	rs1057517518
SNPdbe	rs1057517518
MSV3d	rs1057517518
GWAS Ctlg	rs1057517518

Max Magnitude

0

ClinVar
Risk	rs1057517518(A;A)
Alt	rs1057517518(A;A)
Reference	Rs1057517518(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.92120817C>T
CLNSRC
CLNACC	RCV000409017.1, RCV000411432.1,