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: rs104886092
rs104886092 		0.925 0.160 X 108584485 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: rs104886096
rs104886096 		0.925 0.160 X 108586676 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: rs104886097
rs104886097 		0.925 0.160 X 108586694 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: rs104886101
rs104886101 		0.925 0.160 X 108591118 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: rs104886103
rs104886103 		0.925 0.160 X 108591135 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: rs104886105
rs104886105 		0.925 0.160 X 108586730 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: rs104886108
rs104886108 		0.925 0.160 X 108586703 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: rs104886110
rs104886110 		0.925 0.160 X 108591160 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: rs104886113
rs104886113 		0.925 0.160 X 108591592 frameshift variant C/-;CC delins
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: rs104886114
rs104886114 		0.925 0.160 X 108591618 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: rs104886117
rs104886117 		0.925 0.160 X 108595557 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: rs104886118
rs104886118 		0.925 0.160 X 108595566 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: rs104886121
rs104886121 		0.925 0.160 X 108597042 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: rs104886126
rs104886126 		0.925 0.160 X 108597422 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: rs104886127
rs104886127 		0.925 0.160 X 108597423 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: rs104886129
rs104886129 		0.925 0.160 X 108597461 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: rs104886130
rs104886130 		0.925 0.160 X 108597525 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: rs104886133
rs104886133 		0.925 0.160 X 108598730 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: rs104886134
rs104886134 		0.925 0.160 X 108598835 missense variant G/A;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: rs104886135
rs104886135 		0.925 0.160 X 108598747 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: rs104886136
rs104886136 		0.925 0.160 X 108597470 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: rs104886137
rs104886137 		0.925 0.160 X 108597489 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: rs104886138
rs104886138 		0.925 0.160 X 108597507 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: rs104886139
rs104886139 		0.925 0.160 X 108597524 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: rs104886140
rs104886140 		0.925 0.160 X 108598748 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