Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517657
rs1057517657
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057517658
rs1057517658
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		GAA 0.700 CausalMutation CLINVAR

dbSNP: rs1057517659
rs1057517659
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		TCC 0.700 CausalMutation CLINVAR

dbSNP: rs1565152616
rs1565152616
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		A 0.700 CausalMutation CLINVAR

dbSNP: rs557044760
rs557044760
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		C 0.700 CausalMutation CLINVAR

dbSNP: rs786205068
rs786205068
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		TCC 0.700 CausalMutation CLINVAR

dbSNP: rs749865861
rs749865861
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		0.010 GeneticVariation BEFREE In one dHMN-V patient we detected a putative GARS mutation (A57V). 17663003

2007
dbSNP: rs879253928
rs879253928
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
CUI: C2931276
Disease: Spastic paraplegia 17
Spastic paraplegia 17 		0.010 GeneticVariation BEFREE Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as 'seipinopathies'. 21750110

2011
dbSNP: rs879253928
rs879253928
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.010 GeneticVariation BEFREE Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as 'seipinopathies'. 21750110

2011
dbSNP: rs879253928
rs879253928
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		0.010 GeneticVariation BEFREE Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as 'seipinopathies'. 21750110

2011