rs2237025, KIT

N. diseases: 3
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.
Achalasia
CUI: C1321756
Disease: Achalasia
5 0.882 0.080 4 54675713 intron variant T/C snv 0.60 0.010 1.000 1 2012 2012
Esophageal Achalasia
CUI: C0014848
Disease: Esophageal Achalasia
5 0.882 0.080 4 54675713 intron variant T/C snv 0.60 0.010 1.000 1 2012 2012
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
348 0.882 0.080 4 54675713 intron variant T/C snv 0.60 0.010 1.000 1 2017 2017