rs148591292

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	7	Rhizomelic chondrodysplasia punctata type 1
(C;G)	4	carrier of a Rhizomelic chondrodysplasia punctata type 1 allele
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

6

Position

136898242

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs148591292
dbSNP (classic)	rs148591292
ClinGen	rs148591292
ebi	rs148591292
HLI	rs148591292
Exac	rs148591292
Gnomad	rs148591292
Varsome	rs148591292
LitVar	rs148591292
Map	rs148591292
PheGenI	rs148591292
Biobank	rs148591292
1000 genomes	rs148591292
hgdp	rs148591292
ensembl	rs148591292
geneview	rs148591292
scholar	rs148591292
google	rs148591292
pharmgkb	rs148591292
gwascentral	rs148591292
openSNP	rs148591292
23andMe	rs148591292
SNPshot	rs148591292
SNPdbe	rs148591292
MSV3d	rs148591292
GWAS Ctlg	rs148591292

Max Magnitude

7

PEX7 IVS9, G-C, +1

Rhizomelic chondrodysplasia punctata type 1

This SNP is called i5006214 and i6055954 by 23andMe.

ClinVar
Risk	Rs148591292(C;C)
Alt	Rs148591292(C;C)
Reference	Rs148591292(G;G)
Significance	Pathogenic
Disease	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B PEX7-Related Disorders
Variation	info
Gene	PEX7
CLNDBN	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B PEX7-Related Disorders
Reversed	0
HGVS	NC_000006.11:g.137219380G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008227.6, RCV000309699.1, RCV000388756.1,