COL4A3, collagen type IV alpha 3 chain, 1285

N. diseases: 119; N. variants: 129
Disease: Hematuria, Benign Familial ×
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: rs121912826
rs121912826 		1.000 0.120 2 227290062 missense variant G/A snv
CUI: C0241908
Disease: Hematuria, Benign Familial
Hematuria, Benign Familial 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 1 2002 2002
dbSNP: rs121912827
rs121912827 		0.925 0.120 2 227289222 missense variant G/A;T snv 2.0E-05
CUI: C0241908
Disease: Hematuria, Benign Familial
Hematuria, Benign Familial 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 1 2002 2002
dbSNP: rs1363680371
rs1363680371 		0.882 0.120 2 227254659 frameshift variant -/T delins
CUI: C0241908
Disease: Hematuria, Benign Familial
Hematuria, Benign Familial 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 1997 1997
dbSNP: rs1060499654
rs1060499654 		0.882 0.120 2 227280587 stop gained C/T snv 7.0E-06
CUI: C0241908
Disease: Hematuria, Benign Familial
Hematuria, Benign Familial 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121912824
rs121912824 		0.882 0.120 2 227307898 stop gained C/T snv 4.0E-06 2.8E-05
CUI: C0241908
Disease: Hematuria, Benign Familial
Hematuria, Benign Familial 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1346138010
rs1346138010 		0.882 0.120 2 227246688 stop gained G/T snv 8.0E-06 2.1E-05
CUI: C0241908
Disease: Hematuria, Benign Familial
Hematuria, Benign Familial 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs757341933
rs757341933 		0.882 0.120 2 227266473 missense variant G/A;C snv 2.4E-05
CUI: C0241908
Disease: Hematuria, Benign Familial
Hematuria, Benign Familial 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs869025326
rs869025326 		1.000 0.120 2 227253640 splice donor variant T/C snv
CUI: C0241908
Disease: Hematuria, Benign Familial
Hematuria, Benign Familial 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs869025327
rs869025327 		1.000 0.120 2 227294562 missense variant G/A snv
CUI: C0241908
Disease: Hematuria, Benign Familial
Hematuria, Benign Familial 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs869025328
rs869025328 		1.000 0.120 2 227253638 splice region variant G/A;T snv 4.0E-06
CUI: C0241908
Disease: Hematuria, Benign Familial
Hematuria, Benign Familial 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs769744951
rs769744951 		1.000 0.120 2 227267055 synonymous variant T/C snv 8.0E-06
CUI: C0241908
Disease: Hematuria, Benign Familial
Hematuria, Benign Familial 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018