COL4A3, collagen type IV alpha 3 chain, 1285

N. diseases: 119; N. variants: 129
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1175052474
rs1175052474
1.000 2 227295295 inframe insertion -/AGG delins 7.0E-06
CUI: C0239937
Disease: Microscopic hematuria
Microscopic hematuria
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0