rs377767398, RET

N. diseases: 8
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.
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
38 0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv 0.700 1.000 5 1999 2011
Familial medullary thyroid carcinoma
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
45 0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv 0.030 1.000 3 2001 2018
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
71 0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv 0.020 1.000 2 2003 2015
Amyloidosis, Primary Cutaneous
CUI: C0268397
Disease: Amyloidosis, Primary Cutaneous
10 0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv 0.010 1.000 1 2018 2018
C-cell hyperplasia of thyroid
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
16 0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv 0.010 1.000 1 2018 2018
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
162 0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv 0.010 1.000 1 2003 2003
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv 0.010 1.000 1 2001 2001
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv 0.010 1.000 1 2001 2001