rs61750415

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;T)	3	Carrier of a peroxisome biogenesis disorder 1A (Zellweger) mutation

Make rs61750415(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

92503169

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs61750415
dbSNP (classic)	rs61750415
ClinGen	rs61750415
ebi	rs61750415
HLI	rs61750415
Exac	rs61750415
Gnomad	rs61750415
Varsome	rs61750415
LitVar	rs61750415
Map	rs61750415
PheGenI	rs61750415
Biobank	rs61750415
1000 genomes	rs61750415
hgdp	rs61750415
ensembl	rs61750415
geneview	rs61750415
scholar	rs61750415
google	rs61750415
pharmgkb	rs61750415
gwascentral	rs61750415
openSNP	rs61750415
23andMe	rs61750415
SNPshot	rs61750415
SNPdbe	rs61750415
MSV3d	rs61750415
GWAS Ctlg	rs61750415

Max Magnitude

3

aka c.2097dupT (p.Ile700Tyrfs)

ClinVar
Risk	rs61750415(T;T)
Alt	rs61750415(T;T)
Reference	Rs61750415(-;-)
Significance	Pathogenic
Disease	Zellweger syndrome not provided Deafness enamel hypoplasia nail defects
Variation	info
Gene	PEX1
CLNDBN	Zellweger syndrome not provided Deafness enamel hypoplasia nail defects
Reversed	1
HGVS	NC_000007.13:g.92132484dupA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007953.3, RCV000078918.4, RCV000201307.1,