rs146646971, RET

N. diseases: 7
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 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
44 0.807 0.120 10 43114598 missense variant G/C;T snv 2.4E-05 0.710 1.000 7 2005 2018
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.807 0.120 10 43114598 missense variant G/C;T snv 2.4E-05 0.700 1.000 11 2005 2016
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
38 0.807 0.120 10 43114598 missense variant G/C;T snv 2.4E-05 0.700 1.000 9 2005 2017
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.807 0.120 10 43114598 missense variant G/C;T snv 2.4E-05 0.020 1.000 2 2016 2018
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
71 0.807 0.120 10 43114598 missense variant G/C;T snv 2.4E-05 0.020 1.000 2 2016 2018
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.807 0.120 10 43114598 missense variant G/C;T snv 2.4E-05 0.020 1.000 2 2016 2018
Hyperparathyroidism, Primary
CUI: C0221002
Disease: Hyperparathyroidism, Primary
39 0.807 0.120 10 43114598 missense variant G/C;T snv 2.4E-05 0.010 1.000 1 2016 2016