rs121913513, KIT

N. diseases: 9
Source: BEFREE ×
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.
melanoma
CUI: C0025202
Disease: melanoma
352 0.776 0.120 4 54727495 missense variant T/C snv 0.760 1.000 6 1995 2016
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
43 0.776 0.120 4 54727495 missense variant T/C snv 0.730 1.000 3 2006 2017
Esophageal Stenosis
CUI: C0014866
Disease: Esophageal Stenosis
1 0.776 0.120 4 54727495 missense variant T/C snv 0.010 1.000 1 2013 2013
Esophageal Stricture
CUI: C4551650
Disease: Esophageal Stricture
1 0.776 0.120 4 54727495 missense variant T/C snv 0.010 1.000 1 2013 2013
Malignant melanoma, metastatic
CUI: C0860594
Disease: Malignant melanoma, metastatic
5 0.776 0.120 4 54727495 missense variant T/C snv 0.010 1.000 1 2005 2005
mucosal melanoma
CUI: C3898222
Disease: mucosal melanoma
1 0.776 0.120 4 54727495 missense variant T/C snv 0.010 1.000 1 2016 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
1571 0.776 0.120 4 54727495 missense variant T/C snv 0.010 1.000 1 2012 2012
Thymic Carcinoma
CUI: C0205969
Disease: Thymic Carcinoma
8 0.776 0.120 4 54727495 missense variant T/C snv 0.010 1.000 1 2008 2008
Undifferentiated (Embryonal) Sarcoma
CUI: C0855073
Disease: Undifferentiated (Embryonal) Sarcoma
4 0.776 0.120 4 54727495 missense variant T/C snv 0.010 1.000 1 2014 2014