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: rs9827908
rs9827908
LRIG1
5 1.000 3 66395177 intron variant A/G snv 5.2E-02 0.700 1.000 1 2014 2014
dbSNP: rs7349683
rs7349683
EPHA5
3 0.925 0.080 4 65332086 synonymous variant C/A;T snv 0.35 0.020 1.000 2 2013 2019
dbSNP: rs1159057
rs1159057 		1 4 65271097 intergenic variant C/T snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs71597855
rs71597855 		7 0.807 0.240 4 53790270 intron variant G/A snv 2.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs924607
rs924607
LOC100996325 ; LOC105374608
7 0.851 0.120 5 609978 intron variant C/T snv 0.32 0.720 1.000 2 2015 2016
dbSNP: rs11154178
rs11154178
TRDN ; LOC105377982
7 0.807 0.240 6 123540174 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs28445017
rs28445017
LTA ; LOC100287329
1 6 31559979 downstream gene variant G/A;C snv 0.010 < 0.001 1 2016 2016
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs3761980
rs3761980
MAPK14 ; SLC26A8
7 0.807 0.240 6 36026129 upstream gene variant A/G snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs80028505
rs80028505
MAPK14
7 0.807 0.240 6 36030611 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs9501753
rs9501753 		5 1.000 6 221146 intergenic variant G/A snv 2.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2006 2006
dbSNP: rs1060503021
rs1060503021
HSPB1
3 0.925 0.080 7 76304077 stop gained GC/CT mnv 0.010 1.000 1 2012 2012
dbSNP: rs121909113
rs121909113
HSPB1
3 0.925 0.040 7 76303007 missense variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs137852643
rs137852643
GARS1
3 0.925 0.080 7 30609729 missense variant G/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1393404971
rs1393404971
HSPB1
2 1.000 0.040 7 76302833 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs1858826
rs1858826
GNGT1
3 1.000 0.080 7 93719703 intron variant C/T snv 0.90 0.700 1.000 1 2018 2018
dbSNP: rs213273
rs213273
HDAC9
5 1.000 7 18464885 intron variant G/A snv 0.96 0.700 1.000 1 2014 2014
dbSNP: rs557327165
rs557327165
HSPB1
3 0.925 0.080 7 76302828 missense variant C/G;T snv 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs770272088
rs770272088
HSPB1
4 0.882 0.080 7 76302962 missense variant G/A;C;T snv 6.8E-06 0.010 1.000 1 2013 2013
dbSNP: rs863225023
rs863225023
HSPB1
3 0.925 0.080 7 76304078 stop gained C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs57105105
rs57105105
NEFL ; MIR6841
4 0.925 0.080 8 24953776 missense variant C/T snv 0.020 1.000 2 2004 2015
dbSNP: rs104894075
rs104894075
GDAP1
5 0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs104894077
rs104894077
GDAP1
8 0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs104894078
rs104894078
GDAP1
5 0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012