Disease: Acute Chest Syndrome
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
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 121
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs1042713
ADRB2
0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 63
rs1042714
ADRB2
0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 54
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs1801253
ADRB1
0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 34
rs11053646
OLR1
0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 18
rs4244285
CYP2C19
0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18 18
rs1801252
ADRB1
0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 17
rs659366
UCP2
0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40 17
rs751141
EPHX2
0.732 0.400 8 27516348 missense variant G/A snv 0.12 0.10 16
rs3761581
APLN
0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11 5
rs4986893
CYP2C19
0.827 0.240 10 94780653 stop gained G/A snv 5.4E-03 1.5E-03 5
rs2235312
APLN
0.882 0.160 X 129653118 intron variant A/G snv 0.31 3
rs2762939
CYP24A1
0.925 0.160 20 54164712 intron variant G/C;T snv 3