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: rs11761352
rs11761352 		2 7 55883254 upstream gene variant C/A snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs11766051
rs11766051
PSPHP1
2 7 55770852 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs117936590
rs117936590 		2 3 161421071 TF binding site variant C/T snv 2.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs12587001
rs12587001
LOC105370708
2 14 104135840 upstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12613336
rs12613336 		6 2 210704675 regulatory region variant T/C snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs12671091
rs12671091
MRPS17
2 7 55950973 intron variant T/C snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs13244654
rs13244654
SUMF2
4 7 56079263 intron variant T/C snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs1657863
rs1657863 		2 2 210995002 intergenic variant T/G snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs1718302
rs1718302
PAH
2 12 102878908 intron variant G/A snv 0.89 0.700 1.000 1 2019 2019
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: 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: 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: 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
dbSNP: rs35210477
rs35210477
PSPH
2 7 56044524 intron variant A/G snv 4.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs4310999
rs4310999 		2 2 210885574 intergenic variant G/A snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs4535700
rs4535700
NIPSNAP2
2 7 55977755 intron variant T/C snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs4673546
rs4673546 		2 2 210700968 intergenic variant C/T snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs4948106
rs4948106 		2 7 56099902 downstream gene variant T/G snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs56335308
rs56335308
SLC7A2
2 8 17561952 missense variant G/A snv 1.8E-02 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs588682
rs588682
DLGAP1
2 18 3558080 intron variant G/A snv 0.71 0.700 1.000 1 2019 2019