HCG18, HLA complex group 18, 414777

N. diseases: 27; N. variants: 11
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: rs3130380
rs3130380 		0.807 0.280 6 30311353 intron variant G/A snv 6.6E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 2 2009 2012
dbSNP: rs928822
rs928822 		1.000 0.120 6 30307469 intron variant G/T snv 0.66
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: rs11380688
rs11380688 		6 30305977 non coding transcript exon variant TTTT/-;TTT;TTTTT;TTTTTT;TTTTTTTTT delins
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs114623225
rs114623225 		1.000 0.080 6 30311297 intron variant C/G snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs116199901
rs116199901 		1.000 0.080 6 30315875 intron variant G/C snv
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1264622
rs1264622 		1.000 0.120 6 30289159 non coding transcript exon variant C/T snv 0.13
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: rs1264622
rs1264622 		1.000 0.120 6 30289159 non coding transcript exon variant C/T snv 0.13
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs1264622
rs1264622 		1.000 0.120 6 30289159 non coding transcript exon variant C/T snv 0.13
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs261949
rs261949 		1.000 0.120 6 30302303 non coding transcript exon variant G/A snv 0.28
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: rs3094065
rs3094065 		1.000 0.040 6 30314555 intron variant T/C snv 0.92
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3130380
rs3130380 		0.807 0.280 6 30311353 intron variant G/A snv 6.6E-02
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2009 2009
dbSNP: rs3130380
rs3130380 		0.807 0.280 6 30311353 intron variant G/A snv 6.6E-02
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2009 2009
dbSNP: rs3130380
rs3130380 		0.807 0.280 6 30311353 intron variant G/A snv 6.6E-02
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		Neoplasms; Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3130380
rs3130380 		0.807 0.280 6 30311353 intron variant G/A snv 6.6E-02
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2009 2009
dbSNP: rs3130380
rs3130380 		0.807 0.280 6 30311353 intron variant G/A snv 6.6E-02
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		Infections; Immune System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs3130380
rs3130380 		0.807 0.280 6 30311353 intron variant G/A snv 6.6E-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: rs3130380
rs3130380 		0.807 0.280 6 30311353 intron variant G/A snv 6.6E-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: rs3130380
rs3130380 		0.807 0.280 6 30311353 intron variant G/A snv 6.6E-02
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: rs3130380
rs3130380 		0.807 0.280 6 30311353 intron variant G/A snv 6.6E-02
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs577217250
rs577217250 		6 30308903 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTTTTTTTTT delins
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs9357097
rs9357097 		1.000 0.120 6 30317344 intron variant C/T snv 0.33
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: rs9380167
rs9380167 		1.000 0.120 6 30306684 non coding transcript exon variant A/G snv 0.32
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2009 2009