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: rs7840202
rs7840202
UBR5
4 0.851 0.160 8 102296172 intron variant A/C snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs12344615
rs12344615
UBQLN1
4 0.851 0.080 9 83666280 intron variant A/C;G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs8052688
rs8052688
UBE2I
1 1.000 0.040 16 1322182 intron variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs8063
rs8063
UBE2I
1 1.000 0.040 16 1324817 3 prime UTR variant A/C;G snv 4.0E-06; 4.0E-06; 0.71 0.010 1.000 1 2009 2009
dbSNP: rs3747742
rs3747742
TREML2
3 0.882 0.080 6 41194780 missense variant T/C snv 0.33 0.29 0.010 1.000 1 2019 2019
dbSNP: rs75932628
rs75932628
TREM2 ; LOC105375056
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.020 1.000 2 2014 2015
dbSNP: rs10119
rs10119
TOMM40
5 0.925 0.080 19 44903416 3 prime UTR variant G/A snv 0.28 0.010 < 0.001 1 2011 2011
dbSNP: rs11556510
rs11556510
TOMM40
1 1.000 0.040 19 44891562 missense variant T/G snv 9.8E-03 1.2E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs157581
rs157581
TOMM40
3 0.925 0.080 19 44892457 synonymous variant T/C snv 0.25 0.29 0.010 1.000 1 2014 2014
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.010 1.000 1 2018 2018
dbSNP: rs59007384
rs59007384
TOMM40
4 0.851 0.080 19 44893408 intron variant G/A;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs4717806
rs4717806
STX1A ; BUD23 ; LOC105375350
9 0.776 0.200 7 73702147 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs391300
rs391300
SRR
4 0.882 0.160 17 2312964 intron variant T/C snv 0.58 0.010 1.000 1 2018 2018
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: 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: 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
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2015 2015
dbSNP: rs363050
rs363050
SNAP25 ; SNAP25-AS1
8 0.790 0.240 20 10253609 intron variant G/A snv 0.57 0.020 1.000 2 2019 2019
dbSNP: rs3796529
rs3796529
REST
3 0.925 0.080 4 56931248 missense variant C/T snv 0.22 0.22 0.010 1.000 1 2017 2017
dbSNP: rs528528
rs528528
RELN
2 0.925 0.080 7 103748638 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs4978818
rs4978818
PTPN3 ; PALM2AKAP2
2 0.925 0.120 9 109509949 intron variant G/A;C;T snv 0.700 1.000 1 2017 2017