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: rs1780324
rs1780324 		3 1 21495264 intergenic variant A/G snv 0.48 0.700 1.000 1 2008 2008
dbSNP: rs1827293
rs1827293
NBPF3
1 1 21468895 missense variant A/G snv 0.53 0.45 0.700 1.000 1 2018 2018
dbSNP: rs1880887
rs1880887
PDZRN4
1 12 41327628 intron variant C/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs1880889
rs1880889
PDZRN4
2 12 41327433 intron variant A/C snv 0.91 0.700 1.000 1 2013 2013
dbSNP: rs1883415
rs1883415
GPLD1
3 0.925 0.040 6 24491247 intron variant A/C snv 0.34 0.800 1.000 1 2011 2011
dbSNP: rs189263035
rs189263035
GPLD1
1 6 24489732 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1976403
rs1976403
NBPF3
1 1 21439960 upstream gene variant A/C snv 0.33 0.800 1.000 1 2011 2011
dbSNP: rs2183745
rs2183745
LOC105376184
1 9 101456893 regulatory region variant T/A snv 0.65 0.700 1.000 1 2018 2018
dbSNP: rs2229450
rs2229450
ECE1
1 1 21247229 synonymous variant G/A;C snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs2236653
rs2236653
ST3GAL4
1 11 126413890 intron variant C/T snv 0.45 0.800 1.000 1 2011 2011
dbSNP: rs2242420
rs2242420
ALPL
1 1 21578036 3 prime UTR variant C/T snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs2419607
rs2419607
LOC101927600
1 10 112218741 upstream gene variant T/G snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs2445752
rs2445752
CYP19A1 ; MIR4713HG
2 15 51284188 intron variant A/G snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs2519093
rs2519093
ABO
16 0.882 0.200 9 133266456 intron variant T/C snv 0.700 1.000 1 2018 2018
dbSNP: rs2593704
rs2593704
MGAT5
1 2 134247706 intron variant G/C snv 0.80 0.700 1.000 1 2018 2018
dbSNP: rs2642438
rs2642438
MTARC1
6 1 220796686 missense variant A/G snv 0.75 0.78 0.700 1.000 1 2018 2018
dbSNP: rs281377
rs281377
FUT2 ; LOC105447645
4 0.925 0.120 19 48703346 synonymous variant C/T snv 0.49 0.42 0.800 1.000 1 2011 2011
dbSNP: rs281392
rs281392
NTN5 ; SEC1P
1 19 48661695 synonymous variant A/G snv 0.57 0.55 0.700 1.000 1 2018 2018
dbSNP: rs28400013
rs28400013
IZUMO1
1 19 48747415 upstream gene variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs314253
rs314253
DLG4
4 17 7188331 downstream gene variant T/C snv 0.37 0.800 1.000 1 2011 2011
dbSNP: rs3181238
rs3181238
TDP2
1 6 24654215 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs36053309
rs36053309 		1 1 21579111 downstream gene variant C/G;T snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs381254
rs381254
MAMSTR
1 19 48717947 intron variant C/T snv 0.92 0.700 1.000 1 2018 2018
dbSNP: rs4654971
rs4654971
ALPL
1 1 21571410 intron variant T/C snv 7.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs495828
rs495828 		24 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 0.700 1.000 1 2010 2010