COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Alport Syndrome ×
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: rs104886091
rs104886091 		0.925 0.160 X 108582921 missense variant G/A snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.710 1.000 1 1992 1992
dbSNP: rs104886186
rs104886186 		0.925 0.160 X 108620303 missense variant G/A snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.710 1.000 1 1996 1996
dbSNP: rs104886308
rs104886308 		0.851 0.160 X 108696350 missense variant G/A;C;T snv 2.2E-05
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.710 1.000 1 1997 1997
dbSNP: rs104886047
rs104886047 		1.000 0.160 X 108539754 stop gained T/C;G snv 4.9E-05
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886048
rs104886048 		1.000 0.160 X 108539751 stop gained C/A snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886049
rs104886049 		1.000 0.160 X 108440138 stop gained G/T snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886050
rs104886050 		1.000 0.160 X 108440126 start lost A/G snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886051
rs104886051 		1.000 0.160 X 108571416 stop gained G/T snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886052
rs104886052 		1.000 0.160 X 108571458 missense variant G/A;C snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886055
rs104886055 		0.925 0.160 X 108573628 missense variant G/C snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886056
rs104886056 		0.925 0.160 X 108573637 missense variant G/C;T snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886057
rs104886057 		1.000 0.160 X 108575956 missense variant G/A snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886059
rs104886059 		1.000 0.160 X 108575911 missense variant G/T snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886060
rs104886060 		0.925 0.160 X 108575937 missense variant G/A;T snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886061
rs104886061 		0.925 0.160 X 108575947 missense variant G/A;T snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886063
rs104886063 		0.925 0.160 X 108577953 missense variant G/A;T snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886066
rs104886066 		0.925 0.160 X 108577980 missense variant G/A;T snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886067
rs104886067 		0.925 0.160 X 108578078 missense variant G/A snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886068
rs104886068 		0.925 0.160 X 108578319 missense variant G/A snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886070
rs104886070 		1.000 0.160 X 108580543 missense variant G/A snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886071
rs104886071 		1.000 0.160 X 108580548 stop gained C/G;T snv 2.2E-05
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886074
rs104886074 		0.925 0.160 X 108578079 missense variant G/A;T snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886075
rs104886075 		0.925 0.160 X 108578087 missense variant G/A snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886076
rs104886076 		0.925 0.160 X 108578291 missense variant G/C snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs104886078
rs104886078 		0.925 0.160 X 108580722 missense variant G/T snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0