KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
Disease: Dowling-Degos disease 1 ×
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: rs58072617
rs58072617 		0.790 0.120 12 52517702 missense variant A/G;T snv
CUI: C4552092
Disease: Dowling-Degos disease 1
Dowling-Degos disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs58751565
rs58751565 		1.000 0.080 12 52520283 stop gained G/A;T snv 1.6E-05
CUI: C4552092
Disease: Dowling-Degos disease 1
Dowling-Degos disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs61348424
rs61348424 		1.000 0.080 12 52519878 frameshift variant -/T delins
CUI: C4552092
Disease: Dowling-Degos disease 1
Dowling-Degos disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0