rs1051740, EPHX1

N. diseases: 56
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Schwartz-Jampel Syndrome
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
12 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2014 2014
Secondary malignant neoplasm of lymph node
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
188 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2011 2011
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
348 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2003 2003
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
652 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2006 2006
Toxic Epidermal Necrolysis
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
29 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2014 2014
Wheezing
CUI: C0043144
Disease: Wheezing
54 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2011 2011