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: rs149207840
rs149207840
SP140
4 0.851 0.160 2 230279864 intron variant CTGCCTC/-;CTGCCTCCTGCCTC delins 0.15 0.700 1.000 1 2017 2017
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: rs210143
rs210143
BAK1 ; GGNBP1
6 0.827 0.160 6 33579153 intron variant T/C snv 0.74 0.700 1.000 1 2017 2017
dbSNP: rs2308321
rs2308321
MGMT
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs2308327
rs2308327
MGMT
10 0.790 0.280 10 129766906 missense variant A/G snv 9.4E-02 8.7E-02 0.010 1.000 1 2017 2017
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: rs2720680
rs2720680
PVT1
4 0.851 0.160 8 128102971 intron variant A/G snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs34972832
rs34972832
CLEC16A
2 0.925 0.120 16 11105081 intron variant G/A;T snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs35603048
rs35603048
BMF
4 0.851 0.160 15 40099764 intron variant C/A;G;T snv 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: 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: rs4525246
rs4525246
GRAMD1B
4 0.851 0.160 11 123524538 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs6546149
rs6546149
DTNB
4 0.851 0.160 2 25406569 intron variant C/G snv 0.38 0.700 1.000 1 2017 2017
dbSNP: rs6763508
rs6763508
ULK4
4 0.851 0.160 3 41709497 intron variant T/C snv 0.30 0.700 1.000 1 2017 2017
dbSNP: rs6928977
rs6928977
AHI1
2 0.925 0.120 6 135305210 intron variant T/G snv 0.70 0.700 1.000 1 2017 2017
dbSNP: rs73005220
rs73005220
CIB3
4 0.851 0.160 19 16161878 intron variant A/G snv 3.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs9392017
rs9392017 		4 0.851 0.160 6 442357 intergenic variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs9482849
rs9482849 		1 1.000 0.120 6 127967391 downstream gene variant T/C snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs9880772
rs9880772 		5 0.827 0.240 3 27736288 intergenic variant G/A snv 0.59 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: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2016 2016
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
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: 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: rs644236
rs644236
DROSHA
5 0.882 0.320 5 31409008 non coding transcript exon variant T/C snv 0.31 0.35 0.010 1.000 1 2016 2016