rs61752123

Orientation

minus

Stabilized

minus

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

Make rs61752123(C;T)

Make rs61752123(T;T)

Reference

GRCh38 38.1/142

Chromosome

8

Position

76983824

Gene

PEX2

is a	snp
is	mentioned by
dbSNP	rs61752123
dbSNP (classic)	rs61752123
ClinGen	rs61752123
ebi	rs61752123
HLI	rs61752123
Exac	rs61752123
Gnomad	rs61752123
Varsome	rs61752123
LitVar	rs61752123
Map	rs61752123
PheGenI	rs61752123
Biobank	rs61752123
1000 genomes	rs61752123
hgdp	rs61752123
ensembl	rs61752123
geneview	rs61752123
scholar	rs61752123
google	rs61752123
pharmgkb	rs61752123
gwascentral	rs61752123
openSNP	rs61752123
23andMe	rs61752123
SNPshot	rs61752123
SNPdbe	rs61752123
MSV3d	rs61752123
GWAS Ctlg	rs61752123

Max Magnitude

0

OMIM	170993
Desc
Variant	0001
Related	also

ClinVar
Risk	rs61752123(T;T)
Alt	rs61752123(T;T)
Reference	Rs61752123(C;C)
Significance	Pathogenic
Disease	Peroxisome biogenesis disorder 5a (zellweger) Peroxisome biogenesis disorder 5B
Variation	info
Gene	PEX2
CLNDBN	Peroxisome biogenesis disorder 5a (zellweger) Peroxisome biogenesis disorder 5B
Reversed	1
HGVS	NC_000008.10:g.77896060G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014703.24, RCV000032924.24,

[PMID 9585609] Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders.