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: rs72966926
rs72966926 		18 59661164 intron variant G/A snv 9.1E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs949214
rs949214 		1.000 18 59519354 intron variant A/C snv 0.31
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2019 2019
dbSNP: rs949214
rs949214 		1.000 18 59519354 intron variant A/C snv 0.31
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2019 2019
dbSNP: rs949214
rs949214 		1.000 18 59519354 intron variant A/C snv 0.31
CUI: C0376705
Disease: Viral Load result
Viral Load result 		0.700 1.000 1 2019 2019
dbSNP: rs949214
rs949214 		1.000 18 59519354 intron variant A/C snv 0.31
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2019 2019
dbSNP: rs949214
rs949214 		1.000 18 59519354 intron variant A/C snv 0.31
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2019 2019
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