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: rs1657863
rs1657863 		2 2 210995002 intergenic variant T/G snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs16844839
rs16844839 		1 2 210716521 intergenic variant C/T snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs1718302
rs1718302
PAH
2 12 102878908 intron variant G/A snv 0.89 0.700 1.000 1 2019 2019
dbSNP: rs1718309
rs1718309
PAH
2 12 102848618 intron variant A/G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs172642
rs172642
SLC13A5 ; C17orf100 ; ALOX15P1
2 17 6692079 intron variant A/C snv 0.64 0.700 1.000 1 2016 2016
dbSNP: rs1744297
rs1744297
ASPG
12 14 104102135 intron variant T/C snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs17450122
rs17450122
ASCL1
2 12 102960616 upstream gene variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs17450273
rs17450273 		4 12 102967601 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs184650103
rs184650103 		2 4 73984932 upstream gene variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1986734
rs1986734
SHROOM3
3 1.000 0.120 4 76499631 intron variant C/T snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs1998848
rs1998848
NDRG2 ; TPPP2 ; MIR6717
3 1.000 0.040 14 21024070 5 prime UTR variant G/A snv 1.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs2040771
rs2040771 		3 22 19174422 downstream gene variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2072510
rs2072510
LTA4H ; LOC102723340
2 12 96009421 non coding transcript exon variant G/A snv 0.49 0.700 1.000 1 2016 2016
dbSNP: rs2079742
rs2079742
BCAS3
9 0.851 0.240 17 61388336 non coding transcript exon variant T/C snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs2080346
rs2080346
DGCR6
2 22 18905062 upstream gene variant G/A snv 0.78 0.700 1.000 1 2019 2019
dbSNP: rs2135116
rs2135116
ZNF713
2 7 55923451 non coding transcript exon variant A/G snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs2169387
rs2169387
LOC157273
6 8 9323885 intron variant A/G snv 0.87 0.700 1.000 1 2016 2016
dbSNP: rs2242508
rs2242508
PHKG1
2 7 56083796 intron variant A/G snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs2538054
rs2538054 		2 7 56142748 intergenic variant A/G snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs2540641
rs2540641
DGCR9 ; DGCR5
1 22 18972171 intron variant C/A snv 7.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs2731672
rs2731672
GRK6
6 5 177415473 intron variant T/C snv 0.66 0.700 1.000 1 2016 2016
dbSNP: rs28929474
rs28929474
SERPINA1
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs2921604
rs2921604
ANKH
2 5 14867839 intron variant T/C snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs33984773
rs33984773
ATP5MPL ; TDRD9
2 14 103927429 intron variant G/A snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs34148685
rs34148685 		2 7 56156046 intergenic variant T/C snv 4.3E-02 0.700 1.000 1 2019 2019