Disease: Congenital Generalized Lipodystrophy Type 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1565144468
rs1565144468
Entrez Id: 26580;100534595
Gene Symbol: BSCL2;HNRNPUL2-BSCL2
BSCL2;HNRNPUL2-BSCL2
CUI: C1720863
Disease:
Congenital Generalized Lipodystrophy Type 2 		A 0.700 CausalMutation CLINVAR Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci. 11916958 2002