LEMD3, LEM domain containing 3, 23592

N. diseases: 112; N. variants: 5
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: rs138916004
rs138916004 		12 65188408 intron variant A/G snv 4.1E-03
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1565799131
rs1565799131 		1.000 0.120 12 65238694 stop gained G/T snv
CUI: C0265514
Disease: Dermatofibrosis lenticularis disseminata
Dermatofibrosis lenticularis disseminata 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1565776684
rs1565776684 		1.000 12 65171119 splice donor variant G/A;C snv
CUI: C3149399
Disease: DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED
DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED 		0.700 0
dbSNP: rs267607216
rs267607216 		0.851 0.120 12 65245931 stop gained G/A snv
CUI: C0265514
Disease: Dermatofibrosis lenticularis disseminata
Dermatofibrosis lenticularis disseminata 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs267607217
rs267607217 		0.827 0.120 12 65239970 stop gained C/T snv
CUI: C3149399
Disease: DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED
DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED 		0.700 0
dbSNP: rs267607217
rs267607217 		0.827 0.120 12 65239970 stop gained C/T snv
CUI: C3149695
Disease: Melorheostosis with Osteopoikilosis
Melorheostosis with Osteopoikilosis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs267607216
rs267607216 		0.851 0.120 12 65245931 stop gained G/A snv
CUI: C1833699
Disease: Osteopoikilosis, Isolated
Osteopoikilosis, Isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs267607216
rs267607216 		0.851 0.120 12 65245931 stop gained G/A snv
CUI: C0029455
Disease: Osteopoikilosis (disorder)
Osteopoikilosis (disorder) 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs267607216
rs267607216 		0.851 0.120 12 65245931 stop gained G/A snv
CUI: C0025239
Disease: Melorheostosis
Melorheostosis 		Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs267607217
rs267607217 		0.827 0.120 12 65239970 stop gained C/T snv
CUI: C0029455
Disease: Osteopoikilosis (disorder)
Osteopoikilosis (disorder) 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs267607217
rs267607217 		0.827 0.120 12 65239970 stop gained C/T snv
CUI: C1833699
Disease: Osteopoikilosis, Isolated
Osteopoikilosis, Isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs267607217
rs267607217 		0.827 0.120 12 65239970 stop gained C/T snv
CUI: C0025239
Disease: Melorheostosis
Melorheostosis 		Musculoskeletal Diseases 0.010 1.000 1 2009 2009