Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1175052474
rs1175052474
COL4A3 ; MFF-DT
1.000 2 227295295 inframe insertion -/AGG delins 7.0E-06
CUI: C0473237
Disease: Frank hematuria
Frank hematuria 		0.700 0
dbSNP: rs1175052474
rs1175052474
COL4A3 ; MFF-DT
1.000 2 227295295 inframe insertion -/AGG delins 7.0E-06
CUI: C4746547
Disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1175052474
rs1175052474
COL4A3 ; MFF-DT
1.000 2 227295295 inframe insertion -/AGG delins 7.0E-06
CUI: C0730345
Disease: Microalbuminuria
Microalbuminuria 		0.700 0
dbSNP: rs1175052474
rs1175052474
COL4A3 ; MFF-DT
1.000 2 227295295 inframe insertion -/AGG delins 7.0E-06
CUI: C0239937
Disease: Microscopic hematuria
Microscopic hematuria 		0.700 0
dbSNP: rs1175052474
rs1175052474
COL4A3 ; MFF-DT
1.000 2 227295295 inframe insertion -/AGG delins 7.0E-06
CUI: C0033687
Disease: Proteinuria
Proteinuria 		0.700 0