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: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs1159805691
rs1159805691
IGFALS ; SPSB3
4 0.851 0.080 16 1792266 frameshift variant T/- del 7.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs1169067903
rs1169067903
NUP214
2 0.925 0.040 9 131197276 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs121909342
rs121909342
DCTN1
5 0.827 0.200 2 74378104 missense variant C/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs121912436
rs121912436
SOD1
7 0.827 0.080 21 31667274 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs1239669755
rs1239669755
IQCG ; LMLN
4 0.851 0.080 3 197960384 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1445888481
rs1445888481
IL1B
2 0.925 0.080 2 112835572 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1475170339
rs1475170339
IGFALS ; SPSB3
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 1998 1998
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2015 2015
dbSNP: rs1990622
rs1990622 		16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs267606673
rs267606673
ATP7A ; PGK1
9 0.776 0.240 X 78029314 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs28942073
rs28942073
HEXB
4 0.851 0.120 5 74718804 missense variant C/T snv 5.9E-04 4.5E-04 0.010 1.000 1 2013 2013
dbSNP: rs3173615
rs3173615
TMEM106B
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs574548474
rs574548474
NUP214
2 0.925 0.040 9 131128389 missense variant T/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs587777574
rs587777574
CHCHD10 ; LOC107985577
4 0.882 0.040 22 23767459 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs63750092
rs63750092
MAPT
3 0.882 0.120 17 46014277 missense variant A/T snv 0.010 1.000 1 2005 2005
dbSNP: rs63750541
rs63750541
GRN
4 0.851 0.160 17 44351586 missense variant G/A;C snv 8.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs745805222
rs745805222
IGF1
7 0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05 0.010 1.000 1 2012 2012
dbSNP: rs753070659
rs753070659
GRN
4 0.851 0.160 17 44350481 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs758440592
rs758440592
AAAS
4 0.882 0.120 12 53314832 missense variant C/T snv 2.0E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs760982722
rs760982722
GFAP
2 0.925 0.080 17 44915224 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs764735825
rs764735825
UBQLN1 ; LOC105376114
3 0.882 0.120 9 83707518 missense variant C/A snv 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs772918193
rs772918193
RHOT1
3 0.882 0.080 17 32208230 missense variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs778098458
rs778098458
VIM ; VIM-AS1
2 0.925 0.080 10 17229556 missense variant G/A;C snv 1.3E-05 0.010 1.000 1 2011 2011
dbSNP: rs779770049
rs779770049
VRK1
1 1.000 0.040 14 96855230 missense variant T/G snv 8.0E-06 0.010 1.000 1 2016 2016