COL4A6, collagen type IV alpha 6 chain, 1288

N. diseases: 43; N. variants: 10
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: rs779748859
rs779748859 		1.000 X 108187279 missense variant C/T snv 1.4E-05 2.8E-05
CUI: C3806737
Disease: DEAFNESS, X-LINKED 6
DEAFNESS, X-LINKED 6 		0.800 0
dbSNP: rs104886376
rs104886376 		1.000 X 108440127 frameshift variant TG/- del
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.700 1.000 1 2006 2006
dbSNP: rs104886408
rs104886408 		1.000 X 108440161 frameshift variant -/TCTT delins
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.700 1.000 1 2008 2008
dbSNP: rs104886427
rs104886427 		1.000 X 108440174 frameshift variant CT/- del
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.700 1.000 1 2009 2009
dbSNP: rs1569469409
rs1569469409 		1.000 X 108440127 start lost T/A snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.700 1.000 1 2014 2014
dbSNP: rs1569469484
rs1569469484 		1.000 X 108440210 splice region variant A/C snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.700 1.000 1 2016 2016
dbSNP: rs281874760
rs281874760 		1.000 X 108440187 frameshift variant AGCCTGCAGAGGC/- delins
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.700 1.000 1 2010 2010
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: rs281874765
rs281874765 		1.000 0.160 X 108440207 splice donor 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