Disease: Familial generalized lipodystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852975
rs137852975
Entrez Id: 26580;100534595
Gene Symbol: BSCL2;HNRNPUL2-BSCL2
BSCL2;HNRNPUL2-BSCL2
CUI: C0221032
Disease:
Familial generalized lipodystrophy 		0.020 GeneticVariation BEFREE Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. 19041432 2009
dbSNP: rs137852975
rs137852975
Entrez Id: 26580;100534595
Gene Symbol: BSCL2;HNRNPUL2-BSCL2
BSCL2;HNRNPUL2-BSCL2
CUI: C0221032
Disease:
Familial generalized lipodystrophy 		0.020 GeneticVariation BEFREE Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. 18057387 2007