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: rs142433332
rs142433332
DARS2
14 0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06 0.700 0
dbSNP: rs1553201258
rs1553201258
DARS2
14 0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 0.700 0
dbSNP: rs1555487316
rs1555487316
UMOD
5 0.882 0.240 16 20348247 missense variant A/C snv 0.700 0
dbSNP: rs6837293
rs6837293
PRKG2
2 0.925 0.160 4 81141777 intron variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs7688672
rs7688672
PRKG2
2 0.925 0.160 4 81148295 intron variant G/A snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs10007469
rs10007469 		2 0.925 0.120 4 9731119 upstream gene variant G/A;C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs10017447
rs10017447 		3 0.925 0.120 4 10173912 regulatory region variant C/A snv 0.67 0.700 1.000 1 2010 2010
dbSNP: rs10020053
rs10020053
SLC2A9
2 0.925 0.120 4 9820024 intron variant T/C snv 0.54 0.700 1.000 1 2010 2010
dbSNP: rs10024152
rs10024152 		3 0.925 0.120 4 10174065 regulatory region variant A/T snv 0.68 0.700 1.000 1 2010 2010
dbSNP: rs10034405
rs10034405 		3 0.925 0.120 4 10172072 upstream gene variant A/G snv 0.14 0.700 1.000 1 2010 2010
dbSNP: rs13110253
rs13110253
MIR548I2
2 0.925 0.120 4 9556935 upstream gene variant G/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs13140817
rs13140817 		3 0.925 0.120 4 9761351 intergenic variant G/A snv 0.55 0.700 1.000 1 2010 2010
dbSNP: rs2127796
rs2127796 		2 0.925 0.120 4 9509183 upstream gene variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs2139240
rs2139240
SLC2A9
2 0.925 0.120 4 9796468 intron variant T/C snv 1.00 0.700 1.000 1 2010 2010
dbSNP: rs2199936
rs2199936
ABCG2
5 0.882 0.160 4 88124179 intron variant A/G;T snv 0.88 0.700 1.000 1 2010 2010
dbSNP: rs2622608
rs2622608
ABCG2
3 0.925 0.120 4 88165592 intron variant A/G;T snv 0.39 0.700 1.000 1 2010 2010
dbSNP: rs4637402
rs4637402
SLC2A9
3 0.925 0.120 4 10043806 intron variant C/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs4693923
rs4693923 		2 0.925 0.120 4 87966961 intergenic variant A/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs4697718
rs4697718 		3 0.925 0.120 4 10172515 upstream gene variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs4697719
rs4697719 		3 0.925 0.120 4 10172534 upstream gene variant G/A snv 0.69 0.700 1.000 1 2010 2010
dbSNP: rs4697898
rs4697898
SLC2A9
3 0.925 0.120 4 9850203 intron variant C/T snv 0.21 0.700 1.000 1 2010 2010
dbSNP: rs4697914
rs4697914
SLC2A9
3 0.925 0.120 4 9950642 intron variant G/A snv 0.46 0.700 1.000 1 2010 2010
dbSNP: rs4697939
rs4697939
LOC105374478
2 0.925 0.120 4 10150678 intergenic variant G/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs4697954
rs4697954 		3 0.925 0.120 4 10172905 regulatory region variant A/G snv 0.71 0.700 1.000 1 2010 2010
dbSNP: rs4697968
rs4697968 		3 0.925 0.120 4 10197004 downstream gene variant C/T snv 0.62 0.700 1.000 1 2010 2010