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: 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: 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: 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: 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: rs1467252662
rs1467252662
GLRA1 ; LOC112267935
2 5 151851530 missense variant G/T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs398122370
rs398122370
PRNP
4 0.925 0.160 20 4699851 missense variant G/C snv 0.010 1.000 1 2000 2000
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: 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: 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: rs121908345
rs121908345
MLC1
6 0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05 0.010 1.000 1 2018 2018
dbSNP: rs1258159645
rs1258159645
NQO1
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1364050643
rs1364050643
REEP1
5 0.851 0.240 2 86232711 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs13963
rs13963
CLEC3B ; EXOSC7
1 3 45035631 missense variant G/A snv 0.49 0.43 0.010 < 0.001 1 2019 2019
dbSNP: rs1471980111
rs1471980111
DNAH8
1 6 38737948 missense variant G/A snv 4.1E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1800014
rs1800014
PRNP
11 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.010 1.000 1 2000 2000
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.010 1.000 1 2019 2019
dbSNP: rs1805032
rs1805032
CACNB4
3 1.000 0.040 2 151839238 stop gained G/A snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs28939711
rs28939711
COX15 ; CUTC
5 0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs374651285
rs374651285
ALB
1 4 73406645 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.020 1.000 2 2019 2019
dbSNP: rs121434444
rs121434444
KIF5A
4 0.882 0.160 12 57569648 missense variant C/T snv 2.8E-05 7.0E-06 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