rs2229493
A SNP in the HSPG2 gene on chromosome 1. Its most notable genotype is C;T: Likely to be benign according to ClinVar
- Gene
- HSPG2
- Location
- Chr 121,833,550 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, FamilyTreeDNA
- Minor allele frequency
- 8%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs2229493 on the minus strand: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 4 HapMap populations.
- AverageC;T 11% C;C 87%
- European ancestry (Utah)C;T 14% C;C 86%
- Han Chinese (Beijing)C;T 0% C;C 100%
- Japanese (Tokyo)C;T 0% C;C 100%
- Yoruba (Nigeria)C;T 31% C;C 63%
Related
Other HSPG2 SNPs
- rs137853248T;TSchwartz Jampel syndrome type 1Very important
- rs762281715A;ASchwartz Jampel syndrome type 1Very important
- rs778653296A;ASchwartz Jampel syndrome type 1Very important
- rs886039909T;TSchwartz Jampel syndrome type 1Very important
- rs886041667-;-Schwartz Jampel syndrome type 1Very important
- rs897471G;Gcommon in clinvarTypical
- rs989994C;Ccommon in complete genomicsTypical
- rs1874792T;Tcommon in clinvarTypical
Source and license
Adapted from rs2229493 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.