SFTA2, surfactant associated 2, 389376

N. diseases: 25; N. variants: 13
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: rs3132581
rs3132581 		0.851 0.040 6 30945681 intron variant G/A snv 9.3E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs2240804
rs2240804 		1.000 0.120 6 30953113 missense variant G/A snv 0.29 0.26
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs114115252
rs114115252 		1.000 0.040 6 30931418 3 prime UTR variant G/A;C;T snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs114115252
rs114115252 		1.000 0.040 6 30931418 3 prime UTR variant G/A;C;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs114838832
rs114838832 		1.000 0.040 6 30937536 intron variant A/G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs114838832
rs114838832 		1.000 0.040 6 30937536 intron variant A/G snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs115123027
rs115123027 		1.000 0.040 6 30939558 intron variant T/C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs12190030
rs12190030 		1.000 6 30953587 3 prime UTR variant C/T snv 0.21
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs12190030
rs12190030 		1.000 6 30953587 3 prime UTR variant C/T snv 0.21
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs12190030
rs12190030 		1.000 6 30953587 3 prime UTR variant C/T snv 0.21
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2010 2010
dbSNP: rs12190030
rs12190030 		1.000 6 30953587 3 prime UTR variant C/T snv 0.21
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2010 2010
dbSNP: rs12697941
rs12697941 		1.000 6 30936937 intron variant G/A snv 0.18
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2009 2009
dbSNP: rs12697941
rs12697941 		1.000 6 30936937 intron variant G/A snv 0.18
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2009 2009
dbSNP: rs12697941
rs12697941 		1.000 6 30936937 intron variant G/A snv 0.18
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2009 2009
dbSNP: rs12697941
rs12697941 		1.000 6 30936937 intron variant G/A snv 0.18
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2009 2009
dbSNP: rs2253705
rs2253705 		1.000 0.080 6 30932317 intron variant T/C snv 0.74
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.700 1.000 1 2013 2013
dbSNP: rs3132571
rs3132571 		0.925 0.200 6 30937536 intron variant A/G snv 0.42
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs3132571
rs3132571 		0.925 0.200 6 30937536 intron variant A/G snv 0.42
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs3132580
rs3132580 		0.790 0.360 6 30952347 missense variant G/A snv 8.0E-02 9.3E-02
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs3132580
rs3132580 		0.790 0.360 6 30952347 missense variant G/A snv 8.0E-02 9.3E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs3132580
rs3132580 		0.790 0.360 6 30952347 missense variant G/A snv 8.0E-02 9.3E-02
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs3132580
rs3132580 		0.790 0.360 6 30952347 missense variant G/A snv 8.0E-02 9.3E-02
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3132580
rs3132580 		0.790 0.360 6 30952347 missense variant G/A snv 8.0E-02 9.3E-02
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs3132580
rs3132580 		0.790 0.360 6 30952347 missense variant G/A snv 8.0E-02 9.3E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3132580
rs3132580 		0.790 0.360 6 30952347 missense variant G/A snv 8.0E-02 9.3E-02
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		Neoplasms; Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012