PSMB8, proteasome 20S subunit beta 8, 5696

N. diseases: 165; N. variants: 9
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 ×
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: 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: 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