Gene: SORL1 ×
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: rs1784933
rs1784933
SORL1
3 0.882 0.080 11 121618707 intron variant G/A snv 0.84 0.020 1.000 2 2015 2017
dbSNP: rs2070045
rs2070045
SORL1
4 0.851 0.080 11 121577381 synonymous variant T/G snv 0.32 0.23 0.020 1.000 2 2014 2015
dbSNP: rs689021
rs689021
SORL1
2 0.925 0.080 11 121500411 intron variant G/A snv 0.40 0.020 0.500 2 2015 2017
dbSNP: rs11218304
rs11218304
SORL1 ; LOC105369535
2 0.925 0.080 11 121478402 intron variant A/G snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs11218343
rs11218343
SORL1
2 0.925 0.080 11 121564878 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs12364988
rs12364988
SORL1
1 1.000 0.080 11 121496917 missense variant T/A;C;G snv 0.49; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1699102
rs1699102
SORL1
3 0.882 0.080 11 121586253 missense variant C/G;T snv 3.2E-05; 0.53 0.010 1.000 1 2017 2017
dbSNP: rs17125548
rs17125548
SORL1
1 1.000 0.080 11 121618854 synonymous variant G/A snv 3.8E-02 9.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs2276412
rs2276412
SORL1
1 1.000 0.080 11 121590137 missense variant C/G;T snv 4.0E-06; 3.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs3824966
rs3824966
SORL1
1 1.000 0.080 11 121577474 intron variant C/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs536360
rs536360
SORL1
1 1.000 0.080 11 121457328 intron variant C/A;T snv 0.52 0.010 1.000 1 2007 2007
dbSNP: rs556349
rs556349
SORL1
1 1.000 0.080 11 121555498 intron variant T/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs641120
rs641120
SORL1
3 0.882 0.080 11 121510256 intron variant G/A snv 0.38 0.010 1.000 1 2009 2009
dbSNP: rs661057
rs661057
SORL1
1 1.000 0.080 11 121458245 intron variant T/C snv 0.40 0.010 1.000 1 2009 2009