Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057524896
rs1057524896
Entrez Id: 26580;100534595
Gene Symbol: BSCL2;HNRNPUL2-BSCL2
BSCL2;HNRNPUL2-BSCL2
CUI: C3888631
Disease:
Monogenic diabetes
G 0.700 CausalMutation CLINVAR A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. 23430896 2012