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: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.020 1.000 2 2019 2019
dbSNP: rs1051169
rs1051169
S100B
5 0.851 0.200 21 46602317 synonymous variant C/A;G;T snv 0.65 0.010 1.000 1 2020 2020
dbSNP: rs1064039
rs1064039
CST3
6 0.827 0.200 20 23637790 missense variant C/G;T snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913223
rs121913223
DHFR
2 1.000 0.040 5 80633904 missense variant T/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121918413
rs121918413
GLRA1 ; LOC112267935
3 1.000 0.120 5 151851470 missense variant G/T snv 0.010 1.000 1 2002 2002
dbSNP: rs1364050643
rs1364050643
REEP1
5 0.851 0.240 2 86232711 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs141138948
rs141138948
EXOSC3
9 0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 0.010 1.000 1 2020 2020
dbSNP: rs1467252662
rs1467252662
GLRA1 ; LOC112267935
2 5 151851530 missense variant G/T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1475170339
rs1475170339
IGFALS ; SPSB3
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs17849781
rs17849781
TP53
22 0.701 0.480 17 7673788 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs267607102
rs267607102
TARDBP
5 0.851 0.120 1 11022196 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2001 2001
dbSNP: rs374651285
rs374651285
ALB
1 4 73406645 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs397514662
rs397514662
COX15 ; CUTC
4 0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs398122370
rs398122370
PRNP
4 0.925 0.160 20 4699851 missense variant G/C snv 0.010 1.000 1 2000 2000
dbSNP: rs587777162
rs587777162
EEF1A2
5 0.925 0.040 20 63495972 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs62643364
rs62643364
PRNP
7 0.851 0.160 20 4699466 synonymous variant A/G;T snv 4.0E-06; 1.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs74315322
rs74315322
HAX1
3 1.000 0.040 1 154275165 stop gained C/T snv 3.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs749191312
rs749191312
RBBP9
2 1.000 0.080 20 18497075 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs756915170
rs756915170
NUP62 ; IL4I1
2 19 49909654 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs771884087
rs771884087
SLPI ; LOC105372630
2 1.000 0.080 20 45253726 synonymous variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs80356717
rs80356717
TARDBP
5 0.851 0.120 1 11018836 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1457713736
rs1457713736
CTSB
1 8 11850867 stop gained C/T snv 7.0E-06 0.010 1.000 1 2010 2010