rs762281715
A SNP in the HSPG2 gene on chromosome 1. Its most notable genotype is A;A: Schwartz Jampel syndrome type 1
- Gene
- HSPG2
- Location
- Chr 121,833,551 (GRCh38)
- Highest magnitude
- 7.8Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadSchwartz Jampel syndrome type 1
- A;GBadCarrier for a Schwartz Jampel syndrome mutation
- G;GGoodcommon in clinvar
On SNPedia: (A;A), (A;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 HSPG2 SNPs
- rs137853248T;TSchwartz 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
- rs2229491T;Tcommon in clinvarTypical
Notes
From SNPedia
Notes
aka c.10894C>T, p.Arg3632Ter and R3632X Considered pathogenic for Schwartz Jampel syndrome type 1 and Lethal Kniest-like syndrome (DDSH) in ClinVar; note however that the first is inherited recessively while the latter is usually considered to be inherited dominantly.
A;A
See discussion and links via main rs-page
A;G
Unaffected in absence of another pathogenic HSPG2 gene mutation. See details via ClinVar link on main SNP/rs# page.
Source and license
Adapted from rs762281715 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.