Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1175052474
rs1175052474
COL4A3 ; MFF-DT
5 1.000 2 227295295 inframe insertion -/AGG delins 7.0E-06 0.700 0
dbSNP: rs1556446493
rs1556446493
COL4A5
3 X 108668328 missense variant G/T snv 0.700 0
dbSNP: rs1569492161
rs1569492161
COL4A5
4 0.882 0.280 X 108586729 missense variant G/C snv 0.700 0
dbSNP: rs281874674
rs281874674
COL4A5
8 0.827 0.280 X 108597479 missense variant G/C;T snv 0.700 0