rs989994
A SNP in the HSPG2 gene on chromosome 1. Its most notable genotype is C;C: common in complete genomics
- Gene
- HSPG2
- Location
- Chr 121,880,156 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, FamilyTreeDNA
- Minor allele frequency
- 5%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableGoodcommon in complete genomics
- C;TGoodConsidered benign in ClinVar
- T;TGoodcommon in clinvar
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 8 HapMap populations.
- AverageC;C 85% C;T 13% T;T 2%
- European ancestry (Utah)C;C 100% C;T 0% T;T 0%
- Han Chinese (Beijing)C;C 100% C;T 0% T;T 0%
- Japanese (Tokyo)C;C 100% C;T 0% T;T 0%
- Yoruba (Nigeria)C;C 58% C;T 34% T;T 8%
- African ancestry (Southwest US)C;C 65% C;T 33% T;T 2%
- Luhya (Kenya)C;C 68% C;T 27% T;T 6%
- Mexican ancestry (Los Angeles)C;C 96% C;T 4% T;T 0%
- Maasai (Kenya)C;C 92% C;T 8% T;T 0%
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
- rs1874792T;Tcommon in clinvarTypical
- rs2229491T;Tcommon in clinvarTypical
Source and license
Adapted from rs989994 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.