Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11598702
NT5C2
10 103138228 intron variant T/C;G snv 1
rs104894419
LIG4
0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 8
rs759838407
LIG4
0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins 3
rs17824620
RPH3A
12 112663189 intron variant C/A snv 0.26 2
rs10759637
SLC31A1 ; CDC26
1.000 0.040 9 113262744 3 prime UTR variant A/C snv 0.47 2
rs7729269
MCC
0.925 0.040 5 113384697 intron variant T/C snv 0.17 3
rs1537514
C1orf167 ; MTHFR
0.882 0.120 1 11788011 missense variant G/C snv 0.10 0.10 4
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs724159947
ETV6
0.851 0.120 12 11869601 missense variant C/T snv 6
rs786205155
ETV6
0.882 0.120 12 11884481 missense variant T/C snv 4
rs724159946
ETV6
1.000 12 11884541 missense variant G/A snv 7.0E-06 3
rs786205154
ETV6
1.000 0.120 12 11885921 coding sequence variant GAACA/- delins 3
rs724159945
ETV6
1.000 12 11885968 missense variant C/A;T snv 3
rs10510050 10 118867050 intron variant A/G snv 0.52 1
rs1523130
NR1I2
3 119780660 5 prime UTR variant T/C snv 0.47 1
rs3814055
NR1I2
0.925 0.040 3 119781188 5 prime UTR variant C/T snv 0.35 4
rs1523127
NR1I2
0.925 0.040 3 119782192 5 prime UTR variant C/A snv 0.48 3
rs1556620697
SH2D1A ; STAG2
0.827 0.360 X 124365758 splice region variant C/G snv 10
rs2071346
MYC ; CASC11
0.925 0.160 8 127736777 intron variant G/T snv 7.1E-02 3
rs1064797085
FLI1
1.000 11 128810620 frameshift variant ATTA/- delins 2
rs5030764
GP9
0.882 0.080 3 129061921 missense variant A/G snv 4.8E-04 7.4E-04 5
rs1297235855
GP9
3 129062206 missense variant C/T snv 1
rs527297896
GFI1B
1.000 0.040 9 132988461 missense variant G/T snv 4.9E-04 8.4E-05 2