SQSTM1, sequestosome 1, 8878

N. diseases: 470; N. variants: 43
Disease: Osteitis Deformans ×
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: rs104893941
rs104893941 		0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal Diseases 0.100 1.000 25 2002 2018
dbSNP: rs368933511
rs368933511 		0.851 0.080 5 179836485 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal Diseases 0.020 1.000 2 2008 2009
dbSNP: rs771966860
rs771966860 		0.925 0.040 5 179836480 missense variant A/G snv 1.6E-05 1.4E-05
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal Diseases 0.020 1.000 2 2005 2005
dbSNP: rs143511494
rs143511494 		0.882 0.040 5 179836501 missense variant G/A snv 4.0E-05 6.3E-05
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal Diseases 0.010 1.000 1 2005 2005
dbSNP: rs202119215
rs202119215 		1.000 0.040 5 179833104 missense variant C/A;T snv 4.0E-06 7.0E-06
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs757212984
rs757212984 		0.882 0.040 5 179836543 stop gained G/A;T snv 3.2E-05; 4.0E-06
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal Diseases 0.010 1.000 1 2005 2005
dbSNP: rs767512628
rs767512628 		1.000 0.040 5 179824019 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs774512680
rs774512680 		1.000 0.040 5 179833662 missense variant T/A snv 4.0E-06
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs776303544
rs776303544 		1.000 0.040 5 179833707 missense variant C/T snv 8.0E-06
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs796052213
rs796052213 		0.925 0.040 5 179833749 stop gained A/T snv
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal Diseases 0.010 1.000 1 2006 2006