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: rs6465657
rs6465657
LMTK2
7 0.807 0.280 7 98187015 intron variant C/T snv 0.41 0.37 0.010 1.000 1 2011 2011
dbSNP: rs2546191
rs2546191
ELL2
4 0.851 0.160 5 95896837 intron variant G/A snv 0.38 0.700 1.000 1 2017 2017
dbSNP: rs1057035
rs1057035
DICER1
12 0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs3742330
rs3742330
DICER1
24 0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.010 1.000 1 2011 2011
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2011 2011
dbSNP: rs4240807
rs4240807 		4 0.851 0.160 16 85951755 downstream gene variant A/C snv 0.76 0.700 1.000 1 2017 2017
dbSNP: rs3781093
rs3781093
GATA3
3 0.882 0.120 10 8059964 intron variant T/C snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs485411
rs485411
GATA3 ; GATA3-AS1
1 1.000 0.120 10 8051222 non coding transcript exon variant T/A;C;G snv 0.81 0.700 1.000 1 2013 2013
dbSNP: rs501764
rs501764
GATA3 ; GATA3-AS1
1 1.000 0.120 10 8051071 non coding transcript exon variant G/T snv 0.87 0.86 0.800 1.000 2 2010 2013
dbSNP: rs1244186
rs1244186
GATA3 ; GATA3-AS1
1 1.000 0.120 10 8050720 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 0.500 2 2011 2012
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2011 2012
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2011 2012
dbSNP: rs181181503
rs181181503
LOC100507377
4 0.851 0.160 12 74276187 intron variant T/C snv 1.5E-03 0.700 1.000 1 2017 2017
dbSNP: rs121964877
rs121964877
CDH1
5 0.851 0.160 16 68822081 stop gained C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2273773
rs2273773
SIRT1
9 0.790 0.360 10 67906841 synonymous variant T/C snv 0.11 7.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs7069102
rs7069102
SIRT1
10 0.790 0.440 10 67903362 intron variant C/G snv 0.64 0.010 1.000 1 2012 2012
dbSNP: rs7895833
rs7895833 		12 0.742 0.440 10 67863299 upstream gene variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2005 2012
dbSNP: rs1432295
rs1432295
LINC01185
1 1.000 0.120 2 60839531 intron variant G/A snv 0.69 0.800 1.000 2 2010 2013
dbSNP: rs324011
rs324011
STAT6
12 0.742 0.360 12 57108399 intron variant C/T snv 0.32 0.010 1.000 1 2011 2011
dbSNP: rs56302315
rs56302315
KDR
5 0.827 0.160 4 55089802 missense variant C/T snv 5.3E-04 4.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2006 2006
dbSNP: rs182123615
rs182123615
JAK2 ; INSL6
7 0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03 0.010 1.000 1 2016 2016