CCR5AS, CCR5 antisense RNA, 102724297

N. diseases: 9; N. variants: 19
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: rs1799987
rs1799987 		0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C4016730
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, DELAYED PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, DELAYED PROGRESSION TO 		0.700 0
dbSNP: rs41469351
rs41469351 		1.000 3 46370771 intron variant C/T snv 6.1E-02
CUI: C4017844
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, INCREASED PERINATAL TRANSMISSION OF
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, INCREASED PERINATAL TRANSMISSION OF 		0.700 0
dbSNP: rs183662584
rs183662584 		1.000 3 46373218 missense variant G/A snv 5.2E-04 1.5E-04
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 1.000 1 2004 2004
dbSNP: rs184279915
rs184279915 		1.000 3 46373708 missense variant G/A;T snv 3.2E-05; 1.2E-05
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 1.000 1 2004 2004
dbSNP: rs1020608562
rs1020608562 		0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		Infections; Immune System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1800452
rs1800452 		3 46373570 missense variant G/A snv 4.9E-03 1.9E-03
CUI: C0019693
Disease: HIV Infections
HIV Infections 		Infections; Immune System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs183662584
rs183662584 		1.000 3 46373218 missense variant G/A snv 5.2E-04 1.5E-04
CUI: C0019693
Disease: HIV Infections
HIV Infections 		Infections; Immune System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs765009973
rs765009973 		3 46373909 missense variant G/T snv 7.4E-05 2.1E-05
CUI: C0019693
Disease: HIV Infections
HIV Infections 		Infections; Immune System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1020608562
rs1020608562 		0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0003165
Disease: Anthracosis
Anthracosis 		Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1020608562
rs1020608562 		0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1020608562
rs1020608562 		0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2011 2016
dbSNP: rs1799987
rs1799987 		0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.020 1.000 2 2011 2018
dbSNP: rs1020608562
rs1020608562 		0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1799987
rs1799987 		0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C0745744
Disease: End Stage Liver Disease
End Stage Liver Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1799987
rs1799987 		0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C3887641
Disease: Recurrent hepatitis
Recurrent hepatitis 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3204849
rs3204849 		1.000 0.080 3 46408579 missense variant T/A snv 0.38 0.31
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
Pneumocystis jiroveci pneumonia 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1799987
rs1799987 		0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs333
rs333 		0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs333
rs333 		0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs333
rs333 		0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs333
rs333 		0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs541069027
rs541069027 		1.000 3 46373290 missense variant G/A snv 1.8E-04 4.2E-05
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 1.000 1 2014 2014
dbSNP: rs6808835
rs6808835 		1.000 0.080 3 46408373 synonymous variant G/A;T snv 0.13
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs333
rs333 		0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.020 1.000 2 2015 2018
dbSNP: rs147879075
rs147879075 		1.000 3 46373902 stop gained C/A;G;T snv 1.6E-05; 8.2E-06; 4.1E-06
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 1.000 1 2015 2015