Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057517657
rs1057517657
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
1.000 0.120 11 62705371 missense variant G/A snv 4.0E-06
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		0.700 0
dbSNP: rs1057517658
rs1057517658
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
1.000 0.120 11 62705357 frameshift variant -/AA delins 4.0E-06
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		0.700 0
dbSNP: rs1057517659
rs1057517659
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
1.000 0.120 11 62705320 frameshift variant G/TCC delins
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		0.700 0
dbSNP: rs1565152616
rs1565152616
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
1.000 0.120 11 62705300 splice donor variant C/A snv
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		0.700 0
dbSNP: rs557044760
rs557044760
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
1.000 0.120 11 62705303 stop gained G/A;C snv 4.1E-06 7.0E-06
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		0.700 0
dbSNP: rs786205068
rs786205068
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
1.000 0.120 11 62705320 frameshift variant GG/TCC delins
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		0.700 0
dbSNP: rs749865861
rs749865861
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
1.000 0.040 11 62705535 missense variant G/A snv 4.0E-06
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		0.010 1.000 1 2007 2007
dbSNP: rs879253928
rs879253928
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
0.882 0.080 11 62705433 missense variant A/G snv
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.010 1.000 1 2011 2011
dbSNP: rs879253928
rs879253928
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
0.882 0.080 11 62705433 missense variant A/G snv
CUI: C2931276
Disease: Spastic paraplegia 17
Spastic paraplegia 17 		0.010 1.000 1 2011 2011
dbSNP: rs879253928
rs879253928
GNG3 ; BSCL2 ; HNRNPUL2-BSCL2
0.882 0.080 11 62705433 missense variant A/G snv
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		0.010 1.000 1 2011 2011