AHSA1, activator of HSP90 ATPase activity 1, 10598

N. diseases: 526; N. variants: 3
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: rs1205185774
rs1205185774 		0.882 0.120 14 77469161 missense variant C/T snv
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2003 2003
dbSNP: rs1205185774
rs1205185774 		0.882 0.120 14 77469161 missense variant C/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2003 2003
dbSNP: rs1205185774
rs1205185774 		0.882 0.120 14 77469161 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2003 2003
dbSNP: rs1205185774
rs1205185774 		0.882 0.120 14 77469161 missense variant C/T snv
CUI: C0949664
Disease: Tauopathies
Tauopathies 		Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1463819761
rs1463819761 		1.000 0.120 14 77459679 missense variant G/C snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs200120741
rs200120741 		1.000 0.080 14 77469173 missense variant G/A snv 2.4E-05
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		Eye Diseases; Musculoskeletal Diseases 0.010 1.000 1 2015 2015