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: rs1010159
rs1010159
SORL1
3 0.882 0.080 11 121612692 non coding transcript exon variant C/T snv 0.55 0.55 0.010 1.000 1 2015 2015
dbSNP: rs11218304
rs11218304
SORL1 ; LOC105369535
2 0.925 0.080 11 121478402 intron variant A/G snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs1784933
rs1784933
SORL1
3 0.882 0.080 11 121618707 intron variant G/A snv 0.84 0.010 1.000 1 2016 2016
dbSNP: rs2070045
rs2070045
SORL1
4 0.851 0.080 11 121577381 synonymous variant T/G snv 0.32 0.23 0.010 1.000 1 2015 2015
dbSNP: rs2298813
rs2298813
SORL1
7 0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs641120
rs641120
SORL1
3 0.882 0.080 11 121510256 intron variant G/A snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs985421
rs985421
SORL1
2 0.925 0.080 11 121491607 intron variant G/A snv 3.0E-02 0.010 1.000 1 2014 2014