rs267608255

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	4	carrier of one Rhizomelic Chondrodysplasia Punctata Type 1 allele
(G;G)	7	Rhizomelic Chondrodysplasia Punctata Type 1 (RCDPS1)

Reference

GRCh38 38.1/141

Chromosome

6

Position

136845605

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs267608255
dbSNP (classic)	rs267608255
ClinGen	rs267608255
ebi	rs267608255
HLI	rs267608255
Exac	rs267608255
Gnomad	rs267608255
Varsome	rs267608255
LitVar	rs267608255
Map	rs267608255
PheGenI	rs267608255
Biobank	rs267608255
1000 genomes	rs267608255
hgdp	rs267608255
ensembl	rs267608255
geneview	rs267608255
scholar	rs267608255
google	rs267608255
pharmgkb	rs267608255
gwascentral	rs267608255
openSNP	rs267608255
23andMe	rs267608255
SNPshot	rs267608255
SNPdbe	rs267608255
MSV3d	rs267608255
GWAS Ctlg	rs267608255

Max Magnitude

7

PEX7 IVS3, A-G, -10

Rhizomelic chondrodysplasia punctata type 1

This SNP is called i5006215 by 23andMe.

ClinVar
Risk	Rs267608255(G;G)
Alt	Rs267608255(G;G)
Reference	Rs267608255(A;A)
Significance	Other
Disease	Peroxisome biogenesis disorder 9B Phytanic acid storage disease Rhizomelic chondrodysplasia punctata
Variation	info
Gene	PEX7
CLNDBN	Peroxisome biogenesis disorder 9B Phytanic acid storage disease Rhizomelic chondrodysplasia punctata
Reversed	0
HGVS	NC_000006.11:g.137166743A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008229.4, RCV000032116.2, RCV000393497.1,