rs794729652

Orientation

minus

Stabilized

minus

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

Make rs794729652(-;C)

Make rs794729652(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

92491330

Gene	GATAD1, PEX1

is a	snp
is	mentioned by
dbSNP	rs794729652
dbSNP (classic)	rs794729652
ClinGen	rs794729652
ebi	rs794729652
HLI	rs794729652
Exac	rs794729652
Gnomad	rs794729652
Varsome	rs794729652
LitVar	rs794729652
Map	rs794729652
PheGenI	rs794729652
Biobank	rs794729652
1000 genomes	rs794729652
hgdp	rs794729652
ensembl	rs794729652
geneview	rs794729652
scholar	rs794729652
google	rs794729652
pharmgkb	rs794729652
gwascentral	rs794729652
openSNP	rs794729652
23andMe	rs794729652
SNPshot	rs794729652
SNPdbe	rs794729652
MSV3d	rs794729652
GWAS Ctlg	rs794729652

Max Magnitude

0

ClinVar
Risk	rs794729652(C;C)
Alt	rs794729652(C;C)
Reference	Rs794729652(-;-)
Significance	Pathogenic
Disease	Zellweger syndrome Peroxisome biogenesis disorder 1B Deafness enamel hypoplasia nail defects
Variation	info
Gene	PEX1
CLNDBN	Zellweger syndrome Peroxisome biogenesis disorder 1B Deafness enamel hypoplasia nail defects
Reversed	1
HGVS	NC_000007.13:g.92120645dupG
CLNSRC
CLNACC	RCV000185568.2, RCV000185569.2, RCV000477843.1,