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: rs2255280
rs2255280
C9 ; DAB2
2 0.925 0.120 5 39394887 intron variant C/A snv 0.98 0.700 1.000 1 2011 2011
dbSNP: rs7074891
rs7074891
TRDMT1
2 0.925 0.120 10 17146475 3 prime UTR variant C/T snv 0.95 0.010 1.000 1 2013 2013
dbSNP: rs4759314
rs4759314
HOTAIR
31 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 0.010 1.000 1 2019 2019
dbSNP: rs7581886
rs7581886
NPAS2
18 0.708 0.320 2 100964784 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs1143684
rs1143684
NQO2
4 0.882 0.160 6 3010156 missense variant C/T snv 0.79 0.84 0.010 1.000 1 2011 2011
dbSNP: rs4795218
rs4795218
HNF1B ; LOC105371754
2 0.925 0.120 17 37718512 intron variant A/G snv 0.82 0.010 < 0.001 1 2018 2018
dbSNP: rs7503953
rs7503953 		3 0.882 0.320 17 6238357 intergenic variant A/C snv 0.81 0.700 1.000 1 2011 2011
dbSNP: rs3124761
rs3124761
SLC2A6
2 0.925 0.120 9 133474633 intron variant T/C snv 0.80 0.010 1.000 1 2019 2019
dbSNP: rs2035565
rs2035565
LINC01829
1 1.000 0.120 2 67392524 intron variant C/T snv 0.74 0.700 1.000 1 2011 2011
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.040 1.000 4 2006 2016
dbSNP: rs4927850
rs4927850
TFRC
2 0.925 0.120 3 196024759 intron variant T/C snv 0.71 0.700 1.000 1 2011 2011
dbSNP: rs13303010
rs13303010
NOC2L ; KLHL17
2 0.925 0.120 1 959193 intron variant G/A snv 0.82 0.69 0.010 < 0.001 1 2018 2018
dbSNP: rs2980879
rs2980879 		3 0.925 0.120 8 125469233 intron variant A/T snv 0.69 0.010 < 0.001 1 2014 2014
dbSNP: rs1630747
rs1630747
SLC5A3 ; MRPS6
2 0.925 0.120 21 34085692 intron variant C/A snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs889312
rs889312 		14 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 0.010 1.000 1 2009 2009
dbSNP: rs7993418
rs7993418
FLT1
2 0.925 0.120 13 28308924 synonymous variant G/A snv 0.80 0.67 0.010 1.000 1 2014 2014
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.010 1.000 1 2012 2012
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs2941471
rs2941471
HNF4G
4 0.851 0.240 8 75558169 intron variant G/A snv 0.65 0.010 < 0.001 1 2018 2018
dbSNP: rs1561927
rs1561927
LINC00824
6 0.807 0.280 8 128555832 intron variant C/T snv 0.65 0.010 1.000 1 2019 2019
dbSNP: rs1537373
rs1537373
CDKN2B-AS1
3 0.925 0.120 9 22103342 intron variant T/G snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs2457571
rs2457571
SLC22A3
2 0.925 0.120 6 160413796 intron variant T/C snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs9582036
rs9582036
FLT1
8 0.776 0.280 13 28311271 intron variant C/A snv 0.59 0.010 1.000 1 2014 2014
dbSNP: rs2073389
rs2073389
SMARCB1
2 0.925 0.120 22 23791306 intron variant C/T snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs5757573
rs5757573
PDGFB
2 0.925 0.120 22 39237617 intron variant C/T snv 0.57 0.010 1.000 1 2018 2018