rs61750420

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	5	peroxisomal biogenesis disorder (Zellweger) allele
(A;G)	3	carrier of peroxisomal biogenesis disorder (Zellweger) allele
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

7

Position

92501562

Gene

PEX1

is a	snp
is	mentioned by
dbSNP	rs61750420
dbSNP (classic)	rs61750420
ClinGen	rs61750420
ebi	rs61750420
HLI	rs61750420
Exac	rs61750420
Gnomad	rs61750420
Varsome	rs61750420
LitVar	rs61750420
Map	rs61750420
PheGenI	rs61750420
Biobank	rs61750420
1000 genomes	rs61750420
hgdp	rs61750420
ensembl	rs61750420
geneview	rs61750420
scholar	rs61750420
google	rs61750420
pharmgkb	rs61750420
gwascentral	rs61750420
openSNP	rs61750420
23andMe	rs61750420
SNPshot	rs61750420
SNPdbe	rs61750420
MSV3d	rs61750420
GWAS Ctlg	rs61750420

Max Magnitude

5

rs61750420, also known as G843D or Gly843Asp, is a SNP in the peroxisomal biogenesis factor 1 PEX1 gene.

The risk allele for this SNP, rs61750420(A), is perhaps the most common PEX1 mutation in those of European ancestry, and it is linked to peroxisome biogenesis disorders such as NALD, IRD, and Zellweger syndrome, including peroxisome biogenesis disorders of complementation group 1. Note that the equivalent SNP for 23andMe, i5012688, is on the opposite strand of rs61750420 and so the risk allele for i5012688 is (T).

OMIM	602136
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs61750420(A;A)
Alt	Rs61750420(A;A)
Reference	Rs61750420(G;G)
Significance	Pathogenic
Disease	Peroxisome biogenesis disorders Leber congenital amaurosis Zellweger syndrome not provided Peroxisome biogenesis disorder 1B
Variation	info
Gene	PEX1
CLNDBN	Peroxisome biogenesis disorders, Zellweger syndrome spectrum Leber congenital amaurosis Zellweger syndrome not provided Peroxisome biogenesis disorder 1B
Reversed	1
HGVS	NC_000007.13:g.92130876C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007946.5, RCV000022416.1, RCV000032927.7, RCV000078922.6, RCV000345695.1,