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: rs3729548
rs3729548
SLC2A1
2 1.000 0.080 1 42934681 intron variant C/T snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs653747
rs653747
LINC00923
2 15 97659878 intron variant C/T snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs6610650
rs6610650 		2 1.000 0.040 X 37777261 intron variant G/A snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs739401
rs739401
CARS1
2 11 3015094 intron variant C/T snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs7704116
rs7704116
PPP2CA
2 1.000 0.080 5 134216763 intron variant C/T snv 9.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs868580411
rs868580411
COL4A5
2 1.000 X 108602973 missense variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs9357155
rs9357155
PSMB8
2 1.000 0.120 6 32842071 non coding transcript exon variant G/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs1191455921
rs1191455921
LMX1B
3 0.925 0.240 9 126693319 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121918673
rs121918673
HNF1B
3 0.925 0.200 17 37701122 missense variant G/C snv 1.9E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs12449782
rs12449782 		3 0.925 0.200 17 63498888 intron variant G/A snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs136161
rs136161
APOL1
3 0.925 0.160 22 36261386 intron variant G/C snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs1883414
rs1883414
HLA-DPB2
3 0.925 0.200 6 33118671 non coding transcript exon variant G/A snv 0.28 0.800 1.000 1 2011 2011
dbSNP: rs2281999
rs2281999
UNC13B
3 0.925 0.160 9 35381507 intron variant C/T snv 0.35 0.38 0.010 1.000 1 2008 2008
dbSNP: rs2607420
rs2607420
ITPKC
3 0.925 0.120 19 40738982 intron variant G/A snv 0.76 0.010 1.000 1 2014 2014
dbSNP: rs28362930
rs28362930
SEMA7A
3 0.925 0.160 15 74408859 downstream gene variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs3923647
rs3923647
TLR1
3 0.925 0.080 4 38797918 missense variant T/A;C;G snv 2.7E-02; 4.0E-06; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs426496
rs426496
AQP2 ; LOC101927318
3 1.000 0.040 12 49954295 synonymous variant T/C snv 0.77 0.71 0.010 1.000 1 2016 2016
dbSNP: rs4309
rs4309
ACE
3 0.925 0.120 17 63482562 synonymous variant C/T snv 0.46 0.36 0.010 1.000 1 2010 2010
dbSNP: rs4972593
rs4972593
LOC107985961
3 0.925 0.200 2 173598126 intergenic variant T/A snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs55703767
rs55703767
COL4A3 ; MFF-DT
3 0.925 0.160 2 227256385 missense variant G/A;T snv 4.0E-06; 0.17 0.010 1.000 1 2019 2019
dbSNP: rs741301
rs741301
ELMO1
3 0.925 0.160 7 36878390 intron variant C/T snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs9974610
rs9974610 		3 1.000 0.080 21 31646056 intergenic variant A/G snv 0.13 0.010 1.000 1 2008 2008
dbSNP: rs2248098
rs2248098
VDR
4 0.925 0.120 12 47859573 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs841853
rs841853
SLC2A1
4 0.882 0.200 1 42935767 intron variant A/C snv 0.66 0.010 1.000 1 2018 2018
dbSNP: rs11089788
rs11089788
MYH9
5 0.851 0.120 22 36355056 intron variant C/A snv 0.46 0.010 1.000 1 2013 2013