CD4, CD4 molecule, 920

N. diseases: 73; 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: rs28917504
rs28917504 		12 6814956 missense variant A/G snv 1.5E-03 6.4E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs28917504
rs28917504 		12 6814956 missense variant A/G snv 1.5E-03 6.4E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs28917504
rs28917504 		12 6814956 missense variant A/G snv 1.5E-03 6.4E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs28917504
rs28917504 		12 6814956 missense variant A/G snv 1.5E-03 6.4E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs28919570
rs28919570 		1.000 12 6816241 missense variant C/T snv 1.9E-02 6.3E-02
CUI: C3151379
Disease: OKT4 EPITOPE DEFICIENCY
OKT4 EPITOPE DEFICIENCY 		0.700 0
dbSNP: rs11064392
rs11064392 		1.000 0.160 12 6789226 intron variant A/G snv 0.14
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs12812942
rs12812942 		0.925 0.080 12 6813328 intron variant A/T snv 0.29
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs12812942
rs12812942 		0.925 0.080 12 6813328 intron variant A/T snv 0.29
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2255301
rs2255301 		0.925 0.160 12 6800276 intron variant T/C snv 0.59 0.61
CUI: C0854094
Disease: HIV-2 infection
HIV-2 infection 		Infections; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2255301
rs2255301 		0.925 0.160 12 6800276 intron variant T/C snv 0.59 0.61
CUI: C0019693
Disease: HIV Infections
HIV Infections 		Infections; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2255301
rs2255301 		0.925 0.160 12 6800276 intron variant T/C snv 0.59 0.61
CUI: C0276501
Disease: Human immunodeficiency virus II infection
Human immunodeficiency virus II infection 		Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2011 2011