rs148591292
A SNP in the PEX7 gene on chromosome 6. Its most notable genotype is C;C: Rhizomelic chondrodysplasia punctata type 1
- Gene
- PEX7
- Location
- Chr 6136,898,242 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadRhizomelic chondrodysplasia punctata type 1
- C;GBadcarrier of a Rhizomelic chondrodysplasia punctata type 1 allele
- G;GGoodcommon in clinvar
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
- rs61753238G;GRhizomelic Chondrodysplasia Punctata Type I disorderVery important
- rs121909153T;TRhizomelic chondrodysplasia punctata type 1Very important
- rs121909154G;GRhizomelic 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
PEX7 IVS9, G-C, +1 Rhizomelic chondrodysplasia punctata type 1 This SNP is called i5006214 and i6055954 by 23andMe.
Source and license
Adapted from rs148591292 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.