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: rs17070145
rs17070145
WWC1
10 0.790 0.120 5 168418786 intron variant C/T snv 0.43 0.010 < 0.001 1 2009 2009
dbSNP: rs121909330
rs121909330
VCP
11 0.752 0.200 9 35065364 missense variant G/A;C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs121909334
rs121909334
VCP
10 0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs387906789
rs387906789
VCP
14 0.742 0.200 9 35065352 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs387906709
rs387906709
UBQLN2
9 0.776 0.120 X 56565363 missense variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs121918100
rs121918100
TTR
11 0.827 0.160 18 31595184 missense variant T/C snv 0.020 1.000 2 2009 2015
dbSNP: rs766647311
rs766647311
TREM2 ; TREML1 ; LOC105375056
3 0.882 0.080 6 41159841 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2020 2020
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 0.500 2 2014 2015
dbSNP: rs104894002
rs104894002
TREM2 ; LOC105375056
7 0.790 0.320 6 41161557 stop gained G/A snv 2.0E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs201258663
rs201258663
TREM2 ; LOC105375056
6 0.807 0.320 6 41161457 missense variant G/A snv 5.6E-05 4.9E-05 0.010 1.000 1 2015 2015
dbSNP: rs797044603
rs797044603
TREM2 ; LOC105375056
5 0.827 0.320 6 41161541 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2306604
rs2306604
TFAM
5 0.827 0.080 10 58388932 intron variant A/C;G;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs367543041
rs367543041
TARDBP
15 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs80356715
rs80356715
TARDBP
6 0.807 0.120 1 11016874 missense variant C/G;T snv 8.0E-06; 2.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs104893941
rs104893941
SQSTM1 ; MRNIP
9 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.010 1.000 1 2016 2016
dbSNP: rs2618516
rs2618516
SPON1
3 0.882 0.080 11 14000092 intron variant T/C snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs12976445
rs12976445
SPACA6 ; MIRLET7E ; MIR125A ; SPACA6P-AS
20 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 0.010 1.000 1 2016 2016
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 2009 2009
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 2018 2018
dbSNP: rs3824968
rs3824968
SORL1
2 0.925 0.080 11 121605213 synonymous variant T/A snv 0.39 0.29 0.010 1.000 1 2009 2009
dbSNP: rs11931074
rs11931074
SNCA ; LOC105377329
7 0.851 0.080 4 89718364 intron variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2017 2018
dbSNP: rs201106962
rs201106962
SNCA
5 0.851 0.080 4 89828156 missense variant A/C snv 8.0E-05 7.0E-05 0.020 1.000 2 2013 2014
dbSNP: rs104893875
rs104893875
SNCA
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1043202
rs1043202
SMUG1
3 0.882 0.080 12 54182178 missense variant T/A snv 0.010 1.000 1 2008 2008