rs78014899, RET

N. diseases: 12
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.
Familial medullary thyroid carcinoma
45 0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 0.830 1.000 11 1996 2018
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
71 0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 0.710 1.000 2 1997 2006
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
38 0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 10 1995 2008
Multiple Endocrine Neoplasia Type 2a
44 0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 5 1997 2011
Multiple Endocrine Neoplasia Type 2b
21 0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 5 1997 2011
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
156 0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 1 1997 1997
Multiple Endocrine Neoplasia, Type IV
23 0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 1 1997 1997
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 1 2014 2014
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 0.010 1 2006 2006
C-cell hyperplasia of thyroid
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
16 0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 0.010 1.000 1 2018 2018
Hyperparathyroidism
CUI: C0020502
Disease: Hyperparathyroidism
14 0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 0.010 1 2006 2006
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 0.010 1 2006 2006