SP110, SP110 nuclear body protein, 3431

N. diseases: 65; N. variants: 27
Disease: Hepatic venoocclusive disease with immunodeficiency ×
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: rs199845488
rs199845488 		1.000 0.120 2 230208012 stop gained T/A;C snv 8.3E-06
CUI: C1856128
Disease: Hepatic venoocclusive disease with immunodeficiency
Hepatic venoocclusive disease with immunodeficiency 		Digestive System Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 2 2006 2012
dbSNP: rs397515571
rs397515571 		1.000 0.120 2 230212345 splice region variant -/C delins 7.0E-06
CUI: C1856128
Disease: Hepatic venoocclusive disease with immunodeficiency
Hepatic venoocclusive disease with immunodeficiency 		Digestive System Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1560530550
rs1560530550 		1.000 0.120 2 230178208 frameshift variant -/G delins
CUI: C1856128
Disease: Hepatic venoocclusive disease with immunodeficiency
Hepatic venoocclusive disease with immunodeficiency 		Digestive System Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397515361
rs397515361 		1.000 0.120 2 230212372 frameshift variant G/- delins
CUI: C1856128
Disease: Hepatic venoocclusive disease with immunodeficiency
Hepatic venoocclusive disease with immunodeficiency 		Digestive System Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397515362
rs397515362 		1.000 0.120 2 230216888 frameshift variant G/- del
CUI: C1856128
Disease: Hepatic venoocclusive disease with immunodeficiency
Hepatic venoocclusive disease with immunodeficiency 		Digestive System Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397515569
rs397515569 		1.000 0.120 2 230213018 splice acceptor variant -/GCACCAA delins
CUI: C1856128
Disease: Hepatic venoocclusive disease with immunodeficiency
Hepatic venoocclusive disease with immunodeficiency 		Digestive System Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397515570
rs397515570 		1.000 0.120 2 230212971 frameshift variant T/- delins
CUI: C1856128
Disease: Hepatic venoocclusive disease with immunodeficiency
Hepatic venoocclusive disease with immunodeficiency 		Digestive System Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397515572
rs397515572 		1.000 0.120 2 230216849 missense variant TG/AT mnv
CUI: C1856128
Disease: Hepatic venoocclusive disease with immunodeficiency
Hepatic venoocclusive disease with immunodeficiency 		Digestive System Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0