Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 ×
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: rs121908250
rs121908250 		1.000 0.120 18 59480228 missense variant A/T snv 3.6E-05 7.0E-05
CUI: C4012050
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases 0.800 1.000 2 2009 2010
dbSNP: rs121908251
rs121908251 		1.000 0.120 18 59469568 missense variant C/G snv
CUI: C4012050
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases 0.800 1.000 2 2009 2010
dbSNP: rs121908252
rs121908252 		1.000 0.120 18 59438119 missense variant C/G snv
CUI: C4012050
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases 0.800 1.000 2 2009 2010
dbSNP: rs121908254
rs121908254 		1.000 0.120 18 59466772 missense variant A/G snv 2.0E-05
CUI: C4012050
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases 0.800 1.000 2 2009 2010
dbSNP: rs121908253
rs121908253 		1.000 0.120 18 59466820 missense variant G/A;C snv 2.1E-04; 4.0E-06
CUI: C4012050
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2009 2010
dbSNP: rs563023244
rs563023244 		1.000 0.120 18 59448074 frameshift variant -/A ins 5.6E-05 7.0E-05
CUI: C4012050
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases 0.700 0