Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104886142
COL4A5
0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 10
rs1060499654
COL4A3 ; MFF-DT
0.882 0.120 2 227280587 stop gained C/T snv 7.0E-06 3
rs121912824
COL4A3 ; MFF-DT
0.882 0.120 2 227307898 stop gained C/T snv 4.0E-06 2.8E-05 3
rs1346138010
COL4A3 ; MFF-DT
0.882 0.120 2 227246688 stop gained G/T snv 8.0E-06 2.1E-05 3
rs769783985
COL4A4
0.925 0.120 2 227052395 missense variant C/G;T snv 1.2E-05 2.1E-05 3
rs1363680371
MFF-DT ; COL4A3
0.882 0.120 2 227254659 frameshift variant -/T delins 3
rs757341933
MFF-DT ; COL4A3
0.882 0.120 2 227266473 missense variant G/A;C snv 2.4E-05 3
rs121912860
COL4A4
0.925 0.120 2 227055971 missense variant C/T snv 7.0E-06 2
rs1559643753
COL4A4
1.000 0.120 2 227108597 missense variant C/T snv 2
rs121912827
MFF-DT ; COL4A3
0.925 0.120 2 227289222 missense variant G/A;T snv 2.0E-05 2
rs121912826
COL4A3 ; MFF-DT
1.000 0.120 2 227290062 missense variant G/A snv 1
rs769744951
COL4A3 ; MFF-DT
1.000 0.120 2 227267055 synonymous variant T/C snv 8.0E-06 1
rs869025327
COL4A3 ; MFF-DT
1.000 0.120 2 227294562 missense variant G/A snv 1
rs869025328
COL4A3 ; MFF-DT
1.000 0.120 2 227253638 splice region variant G/A;T snv 4.0E-06 1
rs13027659
COL4A4
1.000 0.120 2 227051131 missense variant C/T snv 1.2E-02 1.3E-02 1
rs1553696235
COL4A4
1.000 0.120 2 227119920 missense variant C/T snv 1
rs1559493506
COL4A4
1.000 0.120 2 227047541 frameshift variant -/T delins 1
rs1559742015
COL4A4
1.000 0.120 2 227147412 splice donor variant C/T snv 1
rs370474706
COL4A4
1.000 0.120 2 227051141 missense variant C/A;T snv 8.0E-06; 2.8E-05 1
rs777805216
COL4A4
1.000 0.120 2 227088805 missense variant G/A snv 3.2E-05 1
rs869025329
COL4A4
1.000 0.120 2 227098800 splice acceptor variant T/G snv 1
rs869025326
MFF-DT ; COL4A3
1.000 0.120 2 227253640 splice donor variant T/C snv 1