rs121909152

Orientation

plus

Stabilized

plus

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

Make rs121909152(A;A)

Make rs121909152(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

136869905

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs121909152
dbSNP (classic)	rs121909152
ClinGen	rs121909152
ebi	rs121909152
HLI	rs121909152
Exac	rs121909152
Gnomad	rs121909152
Varsome	rs121909152
LitVar	rs121909152
Map	rs121909152
PheGenI	rs121909152
Biobank	rs121909152
1000 genomes	rs121909152
hgdp	rs121909152
ensembl	rs121909152
geneview	rs121909152
scholar	rs121909152
google	rs121909152
pharmgkb	rs121909152
gwascentral	rs121909152
openSNP	rs121909152
23andMe	rs121909152
SNPshot	rs121909152
SNPdbe	rs121909152
MSV3d	rs121909152
GWAS Ctlg	rs121909152

Max Magnitude

0

OMIM	601757
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121909152(A;A)
Alt	rs121909152(A;A)
Reference	Rs121909152(G;G)
Significance	Pathogenic
Disease	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B
Variation	info
Gene	PEX7
CLNDBN	Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B
Reversed	0
HGVS	NC_000006.11:g.137191043G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008224.6, RCV000454287.1,