||Congenital generalized lipodystrophy, type 2
||carrier of one congenital generalized lipodystrophy allele
||common in clinvar
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.[PMID 11479539]
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.