rs1805137
From SNPedia
Orientation | plus |
Stabilized | plus |
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 |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 136898213 |
Gene | PEX7 |
is a | snp |
is | mentioned by |
dbSNP | rs1805137 |
dbSNP (classic) | rs1805137 |
ClinGen | rs1805137 |
ebi | rs1805137 |
HLI | rs1805137 |
Exac | rs1805137 |
Gnomad | rs1805137 |
Varsome | rs1805137 |
LitVar | rs1805137 |
Map | rs1805137 |
PheGenI | rs1805137 |
Biobank | rs1805137 |
1000 genomes | rs1805137 |
hgdp | rs1805137 |
ensembl | rs1805137 |
geneview | rs1805137 |
scholar | rs1805137 |
rs1805137 | |
pharmgkb | rs1805137 |
gwascentral | rs1805137 |
openSNP | rs1805137 |
23andMe | rs1805137 |
SNPshot | rs1805137 |
SNPdbe | rs1805137 |
MSV3d | rs1805137 |
GWAS Ctlg | rs1805137 |
Max Magnitude | 5 |
rs1805137, also known as c.875T>A, p.Leu292Ter or 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.
ClinVar | |
---|---|
Risk | Rs1805137(A;A) |
Alt | Rs1805137(A;A) |
Reference | Rs1805137(T;T) |
Significance | Other |
Disease | Rhizomelic chondrodysplasia punctata type 1 not provided PEX7-Related Disorders Peroxisome biogenesis disorder 9B |
Variation | info |
Gene | PEX7 |
CLNDBN | Rhizomelic chondrodysplasia punctata type 1 not provided PEX7-Related Disorders Peroxisome biogenesis disorder 9B |
Reversed | 0 |
HGVS | NC_000006.11:g.137219351T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008222.6, RCV000339271.1, RCV000352824.1, RCV000380952.1, RCV000477898.1, |