rs121909153

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	carrier of a Rhizomelic chondrodysplasia punctata type 1 allele
(T;T)	7	Rhizomelic chondrodysplasia punctata type 1

Reference

GRCh38 38.1/141

Chromosome

6

Position

136869950

Gene

PEX7

is a	snp
is	mentioned by
dbSNP	rs121909153
dbSNP (classic)	rs121909153
ClinGen	rs121909153
ebi	rs121909153
HLI	rs121909153
Exac	rs121909153
Gnomad	rs121909153
Varsome	rs121909153
LitVar	rs121909153
Map	rs121909153
PheGenI	rs121909153
Biobank	rs121909153
1000 genomes	rs121909153
hgdp	rs121909153
ensembl	rs121909153
geneview	rs121909153
scholar	rs121909153
google	rs121909153
pharmgkb	rs121909153
gwascentral	rs121909153
openSNP	rs121909153
23andMe	rs121909153
SNPshot	rs121909153
SNPdbe	rs121909153
MSV3d	rs121909153
GWAS Ctlg	rs121909153

Max Magnitude

7

PEX7 Arg232Ter or R232X

Rhizomelic chondrodysplasia punctata type 1

This SNP is called i5006212 by 23andMe.

OMIM	601757
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs121909153(T;T)
Alt	Rs121909153(T;T)
Reference	Rs121909153(C;C)
Significance	Other
Disease	Rhizomelic chondrodysplasia punctata type 1 not provided
Variation	info
Gene	PEX7
CLNDBN	Rhizomelic chondrodysplasia punctata type 1 not provided
Reversed	0
HGVS	NC_000006.11:g.137191088C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008225.5, RCV000255604.1,