Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 26
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 19
rs2814778
CADM3-AS1 ; ACKR1
0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 14
rs8176746
ABO
0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12 8
rs12075
CADM3-AS1 ; ACKR1
0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 8
rs1801274
FCGR2A
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 8
rs8176693
ABO
0.851 0.160 9 133262254 intron variant C/T snv 9.9E-02 7
rs8176743
ABO
1.000 0.040 9 133256028 missense variant C/T snv 0.12 0.11 7
rs8176749
ABO
1.000 0.040 9 133255801 synonymous variant C/T snv 0.12 0.11 7
rs867186
PROCR ; MMP24-AS1-EDEM2
0.752 0.120 20 35176751 missense variant A/G snv 0.10 9.7E-02 7
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 6
rs5743618
TLR1
0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 6
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 6
rs8176719
ABO
0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35 5
rs33930165
HBB
0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05 4
rs7855466 0.925 0.080 9 133245916 downstream gene variant C/T snv 0.23 3
rs77641731
ABO
1.000 0.040 9 133257521 missense variant T/C snv 3
rs8176722
ABO
1.000 0.040 9 133257367 intron variant C/A snv 0.13 0.12 3
rs4951074
ATP2B4
1.000 0.040 1 203691653 intron variant A/G;T snv 3
rs1211375
LUC7L
1.000 0.040 16 190281 intron variant A/C;T snv 3
rs505151
PCSK9
0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90 3
rs11036238 1.000 0.040 11 5204405 upstream gene variant G/C snv 0.21 2
rs8176672
ABO
1.000 0.040 9 133266772 intron variant C/G;T snv 2
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 2
rs3211938
CD36
0.882 0.200 7 80671133 stop gained T/G snv 6.2E-03 2.6E-02 2