rs75996173, RET

N. diseases: 21
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
44 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.900 0.974 39 1993 2018
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
38 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.730 0.971 35 1991 2017
Familial medullary thyroid carcinoma
45 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.820 1.000 30 1993 2018
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 1.000 9 1994 2017
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
71 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.770 1.000 8 1995 2015
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.850 1.000 8 2002 2014
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.060 1.000 6 2002 2013
Hyperparathyroidism
CUI: C0020502
Disease: Hyperparathyroidism
14 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.050 1.000 5 1998 2015
Amyloidosis, Primary Cutaneous
CUI: C0268397
Disease: Amyloidosis, Primary Cutaneous
10 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 1994 1998
C-cell hyperplasia of thyroid
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
16 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
Goiter
CUI: C0018021
Disease: Goiter
19 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2005 2005
metastatic parathyroid cancer
CUI: C0278681
Disease: metastatic parathyroid cancer
1 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1997 1997
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
156 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 1995 1995
Multiple Endocrine Neoplasia Type 2b
21 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 1995 1995
Multiple Endocrine Neoplasia, Type IV
23 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 1995 1995
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2003 2003
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2014 2014
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
204 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2004 2004
Parathyroid Diseases
CUI: C0030517
Disease: Parathyroid Diseases
4 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1998 1998
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
85 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2003 2003
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
169 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013