SQSTM1, sequestosome 1, 8878

N. diseases: 470; N. variants: 43
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: C4085252
Disease: PAGET DISEASE OF BONE 3
PAGET DISEASE OF BONE 3
0.800 1.000 27 2002 2016
dbSNP: rs143511494
rs143511494
0.882 0.040 5 179836501 missense variant G/A snv 4.0E-05 6.3E-05
CUI: C4085252
Disease: PAGET DISEASE OF BONE 3
PAGET DISEASE OF BONE 3
0.700 1.000 8 2002 2010
dbSNP: rs771966860
rs771966860
0.925 0.040 5 179836480 missense variant A/G snv 1.6E-05 1.4E-05
CUI: C4085252
Disease: PAGET DISEASE OF BONE 3
PAGET DISEASE OF BONE 3
0.700 1.000 8 2002 2010
dbSNP: rs776749939
rs776749939
0.925 5 179833777 missense variant C/T snv 6.0E-05 1.4E-05
CUI: C4085252
Disease: PAGET DISEASE OF BONE 3
PAGET DISEASE OF BONE 3
0.700 1.000 8 2002 2010
dbSNP: rs1247551175
rs1247551175
1.000 5 179836481 missense variant T/C snv 4.0E-06
CUI: C4085252
Disease: PAGET DISEASE OF BONE 3
PAGET DISEASE OF BONE 3
0.700 0
dbSNP: rs757212984
rs757212984
0.882 0.040 5 179836543 stop gained G/A;T snv 3.2E-05; 4.0E-06
CUI: C4085252
Disease: PAGET DISEASE OF BONE 3
PAGET DISEASE OF BONE 3
0.700 0
dbSNP: rs796051869
rs796051869
1.000 5 179836493 frameshift variant -/T delins
CUI: C4085252
Disease: PAGET DISEASE OF BONE 3
PAGET DISEASE OF BONE 3
0.700 0
dbSNP: rs796051870
rs796051870
0.851 0.200 5 179833783 splice donor variant G/A snv 4.0E-06 7.0E-06
CUI: C4085252
Disease: PAGET DISEASE OF BONE 3
PAGET DISEASE OF BONE 3
0.700 0
dbSNP: rs796052213
rs796052213
0.925 0.040 5 179833749 stop gained A/T snv
CUI: C4085252
Disease: PAGET DISEASE OF BONE 3
PAGET DISEASE OF BONE 3
0.700 0