rs61753238
A SNP in the PEX7 gene on chromosome 6. Its most notable genotype is G;G: Rhizomelic Chondrodysplasia Punctata Type I disorder
- Gene
- PEX7
- Location
- Chr 6136,822,785 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;GBadcarrier of one Rhizomelic Chondrodysplasia Punctata Type I disorder allele
- G;GMost notableBadRhizomelic Chondrodysplasia Punctata Type I disorder
On SNPedia: (C;C), (C;G), (G;G). 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
- 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
- rs1805137A;ARhizomelic Chondrodysplasia Punctata Type 1Very important
Notes
From SNPedia
Notes
rs61753238, also known as Tyr40Ter or Y40X, is a mutation in the PEX7 gene on chromosome 6. The rare variant rs61753238(G) allele leads to the autosomal recessive disorder Rhizomelic chondrodysplasia punctata type 1 disorder when inherited in two copies or in compound heterozygotes.
G;G
Being homozygous for the rare rs61753238(G) variant is reported to lead to Rhizomelic Chondrodysplasia Punctata Type I.
Source and license
Adapted from rs61753238 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.