NEDD4, NEDD4 E3 ubiquitin protein ligase, 4734

N. diseases: 101; N. variants: 8
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: rs8032158
rs8032158
1.000 0.080 15 55902679 intron variant T/A;C snv
CUI: C0022548
Disease: Keloid
Keloid
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.810 1.000 2 2010 2013
dbSNP: rs2271289
rs2271289
1.000 0.080 15 55924595 non coding transcript exon variant C/T snv 0.33
CUI: C0022548
Disease: Keloid
Keloid
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013