KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
Disease: Weber-Cockayne 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: rs59730172
rs59730172 		1.000 0.080 12 52517695 missense variant G/A;T snv 3.2E-05
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs61297109
rs61297109 		1.000 0.080 12 52517691 missense variant G/A;C;T snv 4.0E-06
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs58766676
rs58766676 		0.925 0.080 12 52519120 missense variant T/A;C;G snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.720 1.000 2 2004 2010
dbSNP: rs267607457
rs267607457 		1.000 0.080 12 52519159 missense variant A/T snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 15 1993 2011
dbSNP: rs267607458
rs267607458 		1.000 0.080 12 52516794 missense variant C/T snv 4.0E-06
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 15 1993 2011
dbSNP: rs56790237
rs56790237 		1.000 0.080 12 52517700 missense variant C/G snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 15 1993 2011
dbSNP: rs57142010
rs57142010 		0.925 0.080 12 52517699 missense variant T/A;C snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 15 1993 2011
dbSNP: rs57378129
rs57378129 		1.000 0.080 12 52519798 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 15 1993 2011
dbSNP: rs57845028
rs57845028 		1.000 0.080 12 52516763 missense variant G/T snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 15 1993 2011
dbSNP: rs58976397
rs58976397 		1.000 0.080 12 52519148 missense variant C/T snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 15 1993 2011
dbSNP: rs59112594
rs59112594 		1.000 0.080 12 52517628 missense variant G/A;T snv 3.6E-05
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 15 1993 2011
dbSNP: rs59864957
rs59864957 		1.000 0.080 12 52517750 missense variant A/C;G snv 4.0E-06
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 15 1993 2011
dbSNP: rs61222761
rs61222761 		0.925 0.080 12 52519824 missense variant T/A snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 15 1993 2011
dbSNP: rs56729325
rs56729325 		1.000 0.080 12 52517690 missense variant C/T snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs58058996
rs58058996 		1.000 0.080 12 52519815 missense variant A/C;T snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs58072617
rs58072617 		0.790 0.120 12 52517702 missense variant A/G;T snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs59115483
rs59115483 		0.882 0.080 12 52519789 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs59190510
rs59190510 		0.851 0.080 12 52516647 stop gained C/A;T snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs59335325
rs59335325 		1.000 0.080 12 52517711 missense variant A/G;T snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs59464425
rs59464425 		0.925 0.080 12 52517698 missense variant G/A;T snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs60586163
rs60586163 		0.882 0.080 12 52519137 missense variant G/A;C;T snv 4.0E-06
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs60617604
rs60617604 		1.000 0.080 12 52519842 missense variant G/A snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs60809982
rs60809982 		1.000 0.080 12 52517115 missense variant T/C snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs61495052
rs61495052 		0.925 0.080 12 52519767 missense variant T/C snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs56922686
rs56922686 		1.000 0.080 12 52516649 missense variant C/G;T snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007