Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852972
rs137852972 		0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs137852973
rs137852973 		0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs137852972
rs137852972 		0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs137852971
rs137852971 		1.000 0.120 11 62692413 missense variant C/G snv 4.0E-06; 4.0E-06 7.0E-06
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.810 1.000 2 2001 2008
dbSNP: rs137852972
rs137852972 		0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs137852973
rs137852973 		0.752 0.200 11 62702493 missense variant G/A;C snv 7.0E-06
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1565142553
rs1565142553 		1.000 0.120 11 62690523 splice acceptor variant T/G snv
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2002 2002
dbSNP: rs1565144468
rs1565144468 		1.000 0.120 11 62692463 missense variant G/A snv
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2002 2002
dbSNP: rs1013079991
rs1013079991 		1.000 0.120 11 62692475 splice acceptor variant T/C snv
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057517657
rs1057517657 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057517658
rs1057517658 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057517659
rs1057517659 		1.000 0.120 11 62705320 frameshift variant G/TCC delins
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs137852970
rs137852970 		1.000 0.120 11 62694594 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs137852974
rs137852974 		0.925 0.200 11 62691132 stop gained G/A snv 4.0E-06
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs137852975
rs137852975 		0.851 0.240 11 62692671 stop gained C/A snv 2.0E-05 1.4E-05
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1554983076
rs1554983076 		1.000 0.120 11 62691342 frameshift variant -/C delins
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1565144681
rs1565144681 		1.000 0.120 11 62692668 frameshift variant CT/- delins
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1565152616
rs1565152616 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs557044760
rs557044760 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587777606
rs587777606 		0.851 0.160 11 62691300 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587777608
rs587777608 		0.925 0.120 11 62694685 frameshift variant ATACG/- delins
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs747297291
rs747297291 		1.000 0.120 11 62692690 protein altering variant -/CGG ins 8.0E-06
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs749890533
rs749890533 		1.000 0.120 11 62691310 frameshift variant -/C delins 1.4E-05
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs758843908
rs758843908 		1.000 0.120 11 62692411 frameshift variant G/- delins
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs766061024
rs766061024 		1.000 0.120 11 62691423 splice acceptor variant T/C;G snv 4.0E-06; 4.0E-06
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0