Disease: Andersen Syndrome
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
rs200107989
COL4A3 ; MFF-DT
0.882 0.280 2 227294985 missense variant C/T snv 2.0E-04 3.6E-04 3
rs766550724
COL4A4
0.882 0.280 2 227007354 missense variant G/A snv 1.2E-05 1.4E-05 3