rs1805137
A SNP in the PEX7 gene on chromosome 6. Its most notable genotype is A;A: Rhizomelic Chondrodysplasia Punctata Type 1
- Gene
- PEX7
- Location
- Chr 6136,898,213 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadRhizomelic Chondrodysplasia Punctata Type 1
- A;TBadRhizomelic Chondrodysplasia Punctata Type 1 carrier
- T;TGoodcommon in clinvar
On SNPedia: (A;A), (A;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other PEX7 SNPs
- i5006214C;CRhizomelic Chondrodysplasia Punctata Type 1 (RCDPS1)Very important
- i5006215G;GRhizomelic Chondrodysplasia Punctata Type 1 (RCDPS1)Very important
- rs61753238G;GRhizomelic Chondrodysplasia Punctata Type I disorderVery important
- rs121909153T;TRhizomelic chondrodysplasia punctata type 1Very important
- rs121909154G;GRhizomelic chondrodysplasia punctata type 1Very important
- rs148591292C;CRhizomelic chondrodysplasia punctata type 1Very important
- rs267608255G;GRhizomelic Chondrodysplasia Punctata Type 1 (RCDPS1)Very important
Notes
From SNPedia
Notes
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.
Source and license
Adapted from rs1805137 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.