Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893941
rs104893941
SQSTM1 ; MRNIP
9 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.800 1.000 27 2002 2016
dbSNP: rs143511494
rs143511494
SQSTM1 ; MRNIP
3 0.882 0.040 5 179836501 missense variant G/A snv 4.0E-05 6.3E-05 0.700 1.000 8 2002 2010
dbSNP: rs771966860
rs771966860
SQSTM1 ; MRNIP
2 0.925 0.040 5 179836480 missense variant A/G snv 1.6E-05 1.4E-05 0.700 1.000 8 2002 2010
dbSNP: rs776749939
rs776749939
SQSTM1
2 0.925 5 179833777 missense variant C/T snv 6.0E-05 1.4E-05 0.700 1.000 8 2002 2010
dbSNP: rs1247551175
rs1247551175
SQSTM1 ; MRNIP
1 1.000 5 179836481 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs757212984
rs757212984
SQSTM1 ; MRNIP
3 0.882 0.040 5 179836543 stop gained G/A;T snv 3.2E-05; 4.0E-06 0.700 0
dbSNP: rs796051869
rs796051869
SQSTM1 ; MRNIP
1 1.000 5 179836493 frameshift variant -/T delins 0.700 0
dbSNP: rs796051870
rs796051870
SQSTM1
4 0.851 0.200 5 179833783 splice donor variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs796052213
rs796052213
SQSTM1
2 0.925 0.040 5 179833749 stop gained A/T snv 0.700 0