rs137852971
A SNP in the HNRNPUL2-BSCL2 gene on chromosome 11. Its most notable genotype is G;G: Congenital generalized lipodystrophy, type 2
- Gene
- HNRNPUL2-BSCL2
- Location
- Chr 1162,692,413 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GMost notableBadCongenital generalized lipodystrophy, type 2
- C;GBadcarrier of one congenital generalized lipodystrophy allele
- C;CGoodcommon in clinvar
SNPedia records rs137852971 on the minus strand: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Notes
From SNPedia
Notes
rs137852971, also known as c.826G>C, p.Ala276Pro and A276P, represents a very rare mutation in the BSCL2 gene on chromosome 11. The rs137852971(C) allele is reported to lead to congenital generalized lipodystrophy, type 2, when inherited in two copies or as a compound heterozygote. This SNP is referred to as i5006200 by 23andMe; note that it is represented by them on the other strand, so i5006200(C;C) is the common (and normal) genotype in raw data from that company.
G;G
see discussion at rs137852971
C;G
see discussion at rs137852971
Source and license
Adapted from rs137852971 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.