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: rs11755724
rs11755724
RREB1
7 0.807 0.320 6 7118757 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1278359106
rs1278359106
IRAK4
1 1.000 0.120 12 43777710 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1292034
rs1292034
RPS6KB1
3 0.882 0.160 17 59912499 intron variant G/A snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs13069553
rs13069553 		4 0.851 0.200 3 169790484 upstream gene variant A/G snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs1439112
rs1439112
MGAT5
4 0.851 0.160 2 134305027 intron variant G/A snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs2777899
rs2777899
VMP1
4 0.851 0.160 17 59755030 intron variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs3731714
rs3731714
CASP10
3 0.882 0.200 2 201196097 intron variant C/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs559063155
rs559063155
SF3B1
14 0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs6793295
rs6793295
LRRC34
6 0.827 0.240 3 169800667 missense variant T/C;G snv 0.37; 1.8E-04 0.700 1.000 1 2019 2019
dbSNP: rs746910913
rs746910913
MDM2
1 1.000 0.120 12 68839310 frameshift variant C/-;CC delins 0.010 1.000 1 2019 2019
dbSNP: rs7941765
rs7941765 		3 0.882 0.160 11 128629105 intron variant T/C snv 0.66 0.700 1.000 1 2019 2019
dbSNP: rs802734
rs802734 		7 0.827 0.280 6 127957653 intergenic variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs806321
rs806321
DLEU1
4 0.851 0.160 13 50267187 intron variant C/T snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs956572
rs956572
BCL2
11 0.742 0.280 18 63153338 intron variant A/G snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs140522
rs140522
ODF3B
11 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 0.700 1.000 2 2017 2019
dbSNP: rs210143
rs210143
BAK1 ; GGNBP1
6 0.827 0.160 6 33579153 intron variant T/C snv 0.74 0.700 1.000 2 2017 2017
dbSNP: rs10165970
rs10165970
NPAS2
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs10519097
rs10519097
RORA
18 0.708 0.320 15 60997989 intron variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs11637565
rs11637565
DRAIC
2 0.925 0.120 15 69728186 intron variant G/A snv 0.66 0.700 1.000 1 2017 2017
dbSNP: rs11715604
rs11715604
NCK1
4 0.851 0.160 3 136870707 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11943456
rs11943456
TMEM165
18 0.708 0.320 4 55410167 intron variant T/C snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs12638862
rs12638862 		10 0.827 0.160 3 169759718 downstream gene variant A/G snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs12711846
rs12711846
ACOXL ; ACOXL-AS1 ; MIR4435-2HG
4 0.851 0.160 2 111098716 non coding transcript exon variant A/G snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs131821
rs131821
NCAPH2
4 0.851 0.160 22 50511648 intron variant T/-;TT;TTT;TTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs142215530
rs142215530
LOC105370831
2 0.925 0.120 15 56485493 intergenic variant A/G snv 8.0E-02 0.700 1.000 1 2017 2017