Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 12
rs62527607
BAALC ; BAALC-AS2
0.827 0.160 8 103141321 non coding transcript exon variant G/T snv 0.14 5
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs1239681664
ABCA1
0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 15
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
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs4986791
TLR4
0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
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
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs751689316
MECOM
0.925 0.080 3 169131510 missense variant C/T snv 1.2E-05 4
rs1801280
NAT2
0.716 0.440 8 18400344 missense variant T/C snv 0.38 0.39 14
rs1799929
NAT2
0.776 0.240 8 18400484 synonymous variant C/T snv 0.36 0.36 11
rs559063155
SF3B1
0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05 14
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs2239633
CEBPE
0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 12
rs397514606
AKT3
0.763 0.320 1 243695714 missense variant C/T snv 14
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs797045145
HFE ; LOC108783645
0.807 0.240 6 26091479 stop gained G/A snv 6
rs780246573
HFE ; LOC108783645
0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 12
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs111033563
LOC108783645 ; HFE
0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06 8
rs35201683
HFE
0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03 12