Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs2295080
MTOR
0.695 0.320 1 11262571 upstream gene variant G/C;T snv 20
rs1239681664
ABCA1
0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 15
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv 14
rs397514606
AKT3
0.763 0.320 1 243695714 missense variant C/T snv 14
rs2239633
CEBPE
0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 12
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 12
rs1470755915
RUNX1T1
0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 10
rs11978267
IKZF1
0.763 0.240 7 50398606 intron variant A/G snv 0.25 9
rs4132601
IKZF1
0.763 0.240 7 50402906 3 prime UTR variant T/G snv 0.25 9
rs8073069
BIRC5
0.807 0.200 17 78213692 upstream gene variant G/C snv 0.33 7
rs797045145
HFE ; LOC108783645
0.807 0.240 6 26091479 stop gained G/A snv 6
rs1057519766
FLT3
0.851 0.080 13 28028203 missense variant G/C;T snv 5
rs62527607
BAALC ; BAALC-AS2
0.827 0.160 8 103141321 non coding transcript exon variant G/T snv 0.14 5
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs780246573
HFE ; LOC108783645
0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 12
rs111033563
LOC108783645 ; HFE
0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06 8
rs3745274
CYP2B6
0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs927698341
RUNX1T1
0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05 10
rs777017502
CEBPZ
0.925 0.080 2 37222420 missense variant T/C;G snv 4.2E-06; 4.2E-06 3