Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		0.890 1.000 9 1994 2017
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.820 1.000 2 2005 2014
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.800 1.000 11 1995 2018
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.740 1.000 4 1994 2018
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
Multiple endocrine neoplasia Type 2 		0.710 1.000 1 1993 2016
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.710 1.000 1 2001 2018
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		0.710 1.000 1 1995 2017
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		0.060 1.000 6 1998 2015
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases 		0.040 1.000 4 1994 1998
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.030 1.000 3 2005 2008
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 1.000 2 2003 2015
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0268397
Disease: Amyloidosis, Primary Cutaneous
Amyloidosis, Primary Cutaneous 		0.020 1.000 2 1997 2002
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.020 1.000 2 2004 2005
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.020 1.000 2 2003 2015
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.010 1.000 1 2018 2018
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2006 2006
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2013 2013
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C1833929
Disease: THYROID CARCINOMA, SPORADIC MEDULLARY
THYROID CARCINOMA, SPORADIC MEDULLARY 		0.010 1.000 1 2018 2018
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid 		0.010 1.000 1 2018 2018
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia 		0.010 1.000 1 2017 2017