rs61753233

Orientation

plus

Stabilized

plus

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

Make rs61753233(A;C)

Make rs61753233(C;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

136822705

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs61753233
dbSNP (classic)	rs61753233
ClinGen	rs61753233
ebi	rs61753233
HLI	rs61753233
Exac	rs61753233
Gnomad	rs61753233
Varsome	rs61753233
LitVar	rs61753233
Map	rs61753233
PheGenI	rs61753233
Biobank	rs61753233
1000 genomes	rs61753233
hgdp	rs61753233
ensembl	rs61753233
geneview	rs61753233
scholar	rs61753233
google	rs61753233
pharmgkb	rs61753233
gwascentral	rs61753233
openSNP	rs61753233
23andMe	rs61753233
SNPshot	rs61753233
SNPdbe	rs61753233
MSV3d	rs61753233
GWAS Ctlg	rs61753233

Max Magnitude

0

OMIM	601757
Desc
Variant	0011
Related	also

ClinVar
Risk	rs61753233(C;C)
Alt	rs61753233(C;C)
Reference	Rs61753233(A;A)
Significance	Pathogenic
Disease	Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1
Variation	info
Gene	PEX7
CLNDBN	Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata type 1
Reversed	0
HGVS	NC_000006.11:g.137143843A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008233.4, RCV000032117.1,

[PMID 12522768] Identification of PEX7 as the second gene involved in Refsum disease.