rs75076352, RET

N. diseases: 24
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 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.710 1.000 49 1993 2016
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
44 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.890 1.000 19 1994 2017
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
71 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.800 1.000 13 1995 2018
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.700 1.000 11 1994 2017
Hyperparathyroidism
CUI: C0020502
Disease: Hyperparathyroidism
14 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.060 1.000 6 1998 2015
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.820 1.000 5 2005 2014
Familial medullary thyroid carcinoma
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
45 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.740 1.000 4 1994 2018
Parathyroid Diseases
CUI: C0030517
Disease: Parathyroid Diseases
4 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.040 1.000 4 1994 1998
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
145 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.710 1.000 4 2001 2018
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.030 1.000 3 2005 2008
Amyloidosis, Primary Cutaneous
CUI: C0268397
Disease: Amyloidosis, Primary Cutaneous
10 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.020 1.000 2 1997 2002
Multiple Endocrine Neoplasia Type 2b
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
21 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.710 1.000 2 1995 2017
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.020 1.000 2 2003 2015
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
204 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.020 1.000 2 2004 2005
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
85 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.020 1.000 2 2003 2015
C-cell hyperplasia of thyroid
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
16 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.010 1.000 1 2018 2018
Malignant neoplasm of thyroid
CUI: C0007115
Disease: Malignant neoplasm of thyroid
103 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.010 1.000 1 2018 2018
Multiple Endocrine Neoplasia
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
11 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.010 1.000 1 2017 2017
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
156 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.700 1.000 1 1995 1995
Multiple Endocrine Neoplasia, Type IV
CUI: C1970712
Disease: Multiple Endocrine Neoplasia, Type IV
23 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.700 1.000 1 1995 1995
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.010 1.000 1 2006 2006
THYROID CARCINOMA, SPORADIC MEDULLARY
CUI: C1833929
Disease: THYROID CARCINOMA, SPORADIC MEDULLARY
11 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.010 1.000 1 2018 2018
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
135 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.010 1.000 1 2018 2018
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
169 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.010 1.000 1 2013 2013