Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 26
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv 25
rs34676223
MDS2
0.925 0.120 1 23617245 intron variant C/A;T snv 2
rs41271473
RHOU
0.925 0.120 1 228744549 3 prime UTR variant G/A snv 0.18 2
rs228014
ASTN1
1.000 0.120 1 177002472 intron variant T/C snv 0.58 1
rs895520
NPAS2
0.689 0.320 2 100961475 intron variant G/A snv 0.35 23
rs10165970
NPAS2
0.708 0.320 2 100840527 intron variant G/A snv 0.16 18
rs17024869
NPAS2
0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 18
rs7581886
NPAS2
0.708 0.320 2 100964784 intron variant C/T snv 0.92 18
rs1057520009
XPO1
0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 14
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02 14
rs559063155
SF3B1
0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05 14
rs2305160
NPAS2 ; NPAS2-AS1
0.776 0.200 2 100974842 missense variant A/G snv 0.71 0.75 9
rs1057520010
XPO1
0.882 0.200 2 61492336 missense variant T/A;G snv 5
rs13397985
SP110 ; SP140
0.827 0.280 2 230226508 intron variant T/C;G snv 5
rs17483466
MIR4435-2HG ; ACOXL
0.827 0.280 2 111039881 intron variant A/G snv 0.15 5
rs754688962
SF3B1
0.851 0.200 2 197402637 missense variant T/C;G snv 5
rs1057519961
SF3B1
0.851 0.240 2 197402759 missense variant C/T snv 4
rs12711846
MIR4435-2HG ; ACOXL-AS1 ; ACOXL
0.851 0.160 2 111098716 non coding transcript exon variant A/G snv 0.26 4