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: rs1001007
rs1001007 		0.827 0.120 3 46387167 intron variant A/G;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1001007
rs1001007 		0.827 0.120 3 46387167 intron variant A/G;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1001007
rs1001007 		0.827 0.120 3 46387167 intron variant A/G;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1001007
rs1001007 		0.827 0.120 3 46387167 intron variant A/G;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1001007
rs1001007 		0.827 0.120 3 46387167 intron variant A/G;T snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3087253
rs3087253 		3 46377198 intron variant C/T snv 0.62
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
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: 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: 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: 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: rs1020608562
rs1020608562 		0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
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: 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: rs1020608562
rs1020608562 		0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1020608562
rs1020608562 		0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1020608562
rs1020608562 		0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
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: 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
dbSNP: rs1799987
rs1799987 		0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C1277187
Disease: Left ventricular systolic dysfunction
Left ventricular systolic dysfunction 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1799987
rs1799987 		0.763 0.200 3 46370444 intron variant A/G snv 0.49
CUI: C0014057
Disease: Japanese Encephalitis
Japanese Encephalitis 		Infections; Nervous System Diseases 0.010 1.000 1 2019 2019
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: C0343804
Disease: Chronic Chagas' disease
Chronic Chagas' disease 		Infections 0.010 1.000 1 2015 2015