rs1799939, RET

N. diseases: 27
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.
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
71 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.070 0.857 7 2009 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.040 0.750 4 2005 2012
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
204 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.030 1.000 3 2005 2015
THYROID CARCINOMA, SPORADIC MEDULLARY
11 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.030 1.000 3 2004 2008
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.020 2 2014 2017
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.020 1.000 2 2009 2012
Desmoplastic melanoma
CUI: C1333280
Disease: Desmoplastic melanoma
2 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.020 1.000 2 2015 2016
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
277 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.020 1.000 2 2005 2009
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
38 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.020 1.000 2 2004 2011
Multiple Endocrine Neoplasia Type 2a
44 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.020 0.500 2 2004 2006
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.020 2 2014 2017
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
135 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.020 1.000 2 2002 2015
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 2015 2015
Differentiated Thyroid Gland Carcinoma
80 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 2017 2017
Familial medullary thyroid carcinoma
45 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 2011 2011
Follicular thyroid carcinoma
CUI: C0206682
Disease: Follicular thyroid carcinoma
28 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 2015 2015
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
162 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 1999 1999
Malignant desmoplastic melanoma
CUI: C0334439
Disease: Malignant desmoplastic melanoma
1 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 2012 2012
Malignant neoplasm of thyroid
CUI: C0007115
Disease: Malignant neoplasm of thyroid
103 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 2015 2015
melanoma
CUI: C0025202
Disease: melanoma
515 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 2015 2015
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
322 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 2009 2009
Pancreatic Neoplasm
CUI: C0030297
Disease: Pancreatic Neoplasm
20 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 2005 2005
Primary differentiated carcinoma of thyroid gland
41 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 2017 2017
Primary vesicoureteric reflux
CUI: C0403622
Disease: Primary vesicoureteric reflux
1 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1 2009 2009
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
145 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 2015 2015