Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852975
rs137852975
BSCL2 ; HNRNPUL2-BSCL2
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
BSCL2 ; HNRNPUL2-BSCL2
0.020 GeneticVariation BEFREE Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. 18057387

2007