rs36053993, MUTYH

N. diseases: 31
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.
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2019 2019
Neuroendocrine Tumors
CUI: C0206754
Disease: Neuroendocrine Tumors
20 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2017 2017
Small intestine carcinoid
CUI: C1868072
Disease: Small intestine carcinoid
1 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.700 1.000 1 2017 2017
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.700 0
FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
CUI: C4016911
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
1 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.700 0
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
14 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.700 0