rs137853248
A SNP in the HSPG2 gene on chromosome 1. Its most notable genotype is T;T: Schwartz Jampel syndrome type 1
- Gene
- HSPG2
- Location
- Chr 121,864,874 (GRCh38)
- Highest magnitude
- 7.8Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableBadSchwartz Jampel syndrome type 1
- C;TBadCarrier for a Schwartz Jampel syndrome mutation
- C;CGoodcommon in clinvar
SNPedia records rs137853248 on the minus strand: (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
- 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
- rs2229491T;Tcommon in clinvarTypical
Notes
From SNPedia
Notes
aka c.4595G>A, p.Cys1532Tyr and C1532Y OMIM cites a paper stating this mutation as leading to (recessively inherited) Schwartz Jampel syndrome type 1, however, note the mention of a subsequent paper questioning whether there was an additional cause.
T;T
See discussion and links via main rs-page
C;T
Unaffected in absence of another pathogenic HSPG2 gene mutation. See details via ClinVar link on main SNP/rs# page.
Source and license
Adapted from rs137853248 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.