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: rs6431731
rs6431731
LINC01804
4 1.000 0.080 2 15722878 intron variant C/T snv 0.97 0.700 1.000 1 2012 2012
dbSNP: rs690346
rs690346
WDR72
1 1.000 0.080 15 53716648 missense variant T/C snv 0.99 0.96 0.700 1.000 1 2018 2018
dbSNP: rs7588550
rs7588550
ERBB4
4 0.851 0.160 2 212304043 intron variant G/A snv 0.96 0.010 1.000 1 2013 2013
dbSNP: rs1801726
rs1801726
CASR
13 0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92 0.010 1.000 1 2009 2009
dbSNP: rs10794720
rs10794720
WDR37
4 1.000 0.080 10 1110225 intron variant T/C snv 0.89 0.700 1.000 1 2010 2010
dbSNP: rs4819554
rs4819554
IL17RA
10 0.776 0.320 22 17084145 upstream gene variant G/A snv 0.84 0.020 1.000 2 2012 2015
dbSNP: rs2404298
rs2404298
DLGAP2
2 1.000 0.080 8 1420853 intron variant A/G snv 0.84 0.700 1.000 1 2018 2018
dbSNP: rs13111638
rs13111638
SLC2A9 ; LOC105374476
4 0.882 0.200 4 9995266 intron variant T/C snv 0.82 0.700 1.000 1 2018 2018
dbSNP: rs4725366
rs4725366
AOC1 ; LOC105375567
2 1.000 0.080 7 150824966 splice region variant A/G snv 0.81 0.700 1.000 1 2018 2018
dbSNP: rs1171614
rs1171614
SLC16A9
7 0.882 0.200 10 59709780 5 prime UTR variant T/C snv 0.79 0.700 1.000 1 2018 2018
dbSNP: rs1171616
rs1171616
SLC16A9
6 0.882 0.200 10 59708831 intron variant G/T snv 0.79 0.700 1.000 1 2018 2018
dbSNP: rs4821480
rs4821480
MYH9
9 0.807 0.160 22 36299201 intron variant G/T snv 0.78 0.010 1.000 1 2011 2011
dbSNP: rs2032487
rs2032487
MYH9
3 0.882 0.080 22 36299382 intron variant C/T snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs2837554
rs2837554
DSCAM
1 1.000 0.080 21 40295451 intron variant A/G snv 0.78 0.700 1.000 1 2019 2019
dbSNP: rs1813937
rs1813937 		2 1.000 0.080 11 50509630 intergenic variant C/T snv 0.76 0.700 1.000 1 2019 2019
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2011 2011
dbSNP: rs3448
rs3448
RHOA ; GPX1
8 0.776 0.240 3 49359318 3 prime UTR variant T/C snv 0.76 0.010 1.000 1 2016 2016
dbSNP: rs347685
rs347685
TFDP2
4 1.000 0.080 3 142088295 intron variant C/A snv 0.74 0.700 1.000 1 2010 2010
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2012 2015
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2014 2014
dbSNP: rs686548
rs686548
LINC01723
2 1.000 0.080 20 12992873 intron variant A/T snv 0.70 0.700 1.000 1 2018 2018
dbSNP: rs16347
rs16347
IL1A
2 0.925 0.080 2 112774138 3 prime UTR variant -/TGAA delins 0.70 0.010 1.000 1 2003 2003
dbSNP: rs9895661
rs9895661
BCAS3
10 0.882 0.200 17 61379228 non coding transcript exon variant C/T snv 0.69 0.700 1.000 2 2010 2019
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs138873021
rs138873021
ADCY8
1 1.000 0.080 8 130951170 intron variant AGA/- delins 0.68 0.700 1.000 1 2019 2019