Gene: SP110 ×
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: rs11556887
rs11556887
SP110 ; SP140
1 1.000 0.040 2 230212961 missense variant G/A snv 0.10 7.4E-02 0.020 1.000 2 2017 2018
dbSNP: rs9061
rs9061
SP110 ; SP140
2 0.925 0.080 2 230212395 missense variant C/T snv 0.11 9.1E-02 0.020 1.000 2 2013 2017
dbSNP: rs1135791
rs1135791
SP110
2 0.925 0.080 2 230177560 missense variant A/G snv 0.42 0.40 0.010 1.000 1 2017 2017
dbSNP: rs2114591
rs2114591
SP110
1 1.000 0.040 2 230185853 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs2114592
rs2114592
SP110 ; SP140
1 1.000 0.040 2 230210491 intron variant G/A snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs2241525
rs2241525
SP110
1 1.000 0.040 2 230178086 intron variant C/T snv 0.15 0.010 1.000 1 2018 2018
dbSNP: rs3948464
rs3948464
SP110
1 1.000 0.040 2 230185999 missense variant A/C;G snv 8.0E-06; 0.89 0.010 1.000 1 2012 2012
dbSNP: rs4327230
rs4327230
SP110
1 1.000 0.040 2 230182067 intron variant G/A;C snv 0.010 1.000 1 2016 2016