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: C1368019
Disease: Paget Disease
Paget Disease
Neoplasms 0.070 1.000 7 2004 2016