PSMB8, proteasome 20S subunit beta 8, 5696

N. diseases: 165; N. variants: 9
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: rs387906680
rs387906680 		1.000 6 32841671 missense variant C/A;T snv
CUI: C4746851
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 		0.800 1.000 6 2010 2016
dbSNP: rs9357155
rs9357155 		1.000 0.120 6 32842071 non coding transcript exon variant G/A;C snv
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 1 2011 2011
dbSNP: rs1554239543
rs1554239543 		1.000 6 32842766 missense variant T/G snv
CUI: C4746851
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 		0.700 1.000 6 2010 2016
dbSNP: rs2071543
rs2071543 		0.925 0.200 6 32843852 missense variant G/T snv 0.14 0.13
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: rs9357155
rs9357155 		1.000 0.120 6 32842071 non coding transcript exon variant G/A;C snv
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: rs2071540
rs2071540 		0.925 0.200 6 32845139 non coding transcript exon variant T/C snv 0.61
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: rs2071540
rs2071540 		0.925 0.200 6 32845139 non coding transcript exon variant T/C snv 0.61
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: rs2071543
rs2071543 		0.925 0.200 6 32843852 missense variant G/T snv 0.14 0.13
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs3763349
rs3763349 		1.000 0.120 6 32840455 upstream gene variant A/G snv 0.53
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: rs6924102
rs6924102 		0.925 0.200 6 32843606 non coding transcript exon variant A/G snv 0.40
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: rs6924102
rs6924102 		0.925 0.200 6 32843606 non coding transcript exon variant A/G snv 0.40
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: rs748082671
rs748082671 		1.000 6 32843013 missense variant G/A snv 3.2E-05 5.6E-05
CUI: C4746851
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 		0.700 0
dbSNP: rs2071543
rs2071543 		0.925 0.200 6 32843852 missense variant G/T snv 0.14 0.13
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2017 2018
dbSNP: rs2071543
rs2071543 		0.925 0.200 6 32843852 missense variant G/T snv 0.14 0.13
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2017 2018
dbSNP: rs2071464
rs2071464 		0.925 0.040 6 32841299 intron variant G/A snv 0.43
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs2071464
rs2071464 		0.925 0.040 6 32841299 intron variant G/A snv 0.43
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		Skin and Connective Tissue Diseases 0.010 < 0.001 1 2017 2017