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rs1805137

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Rhizomelic Chondrodysplasia Punctata Type 1
(A;T) 3 Rhizomelic Chondrodysplasia Punctata Type 1 carrier
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome6
Position136898213
GenePEX7
is asnp
is mentioned by
dbSNPrs1805137
ebirs1805137
HLIrs1805137
Exacrs1805137
Varsomers1805137
Maprs1805137
PheGenIrs1805137
hapmaprs1805137
1000 genomesrs1805137
hgdprs1805137
ensemblrs1805137
gopubmedrs1805137
geneviewrs1805137
scholarrs1805137
googlers1805137
pharmgkbrs1805137
gwascentralrs1805137
openSNPrs1805137
23andMers1805137
23andMe allrs1805137
SNP Nexus

SNPshotrs1805137
SNPdbers1805137
MSV3drs1805137
GWAS Ctlgrs1805137
Max Magnitude5

rs1805137, also known as L292X, is a mutation in the peroxisome targeting signal 2 receptor PEX7 gene.

This mutation, if inherited in two copies or with another defective PEX7 allele, is considered causative for Rhizomelic chondrodysplasia punctata type 1.

This SNP is also called i3002517 and i6055953 by 23andMe.

OMIM601757
Desc
Variant0001
Relatedalso
ClinVar
Risk rs1805137(A;A)
Alt rs1805137(A;A)
Reference rs1805137(T;T)
Significance Pathogenic
Disease Rhizomelic chondrodysplasia punctata type 1
Variation info
Gene PEX7
CLNDBN Rhizomelic chondrodysplasia punctata type 1
Reversed 0
HGVS NC_000006.11:g.137219351T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008222.6,