rs75234356, RET

N. diseases: 14
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
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
45 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.870 1.000 27 1993 2018
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
71 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.760 1.000 7 1997 2019
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
44 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.720 1.000 12 1997 2015
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
38 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.700 1.000 17 1997 2019
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
156 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.700 1.000 1 2005 2005
Multiple Endocrine Neoplasia Type 2b
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
21 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.700 1.000 1 2005 2005
Multiple Endocrine Neoplasia, Type IV
CUI: C1970712
Disease: Multiple Endocrine Neoplasia, Type IV
23 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.700 1.000 1 2005 2005
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.020 1.000 2 2010 2014
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.020 1.000 2 2010 2014
Amyloidosis, Primary Cutaneous
CUI: C0268397
Disease: Amyloidosis, Primary Cutaneous
10 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2015 2015
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
204 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2012 2012
Parathyroid hyperplasia
CUI: C0271844
Disease: Parathyroid hyperplasia
1 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2010 2010
THYROID CARCINOMA, SPORADIC MEDULLARY
CUI: C1833929
Disease: THYROID CARCINOMA, SPORADIC MEDULLARY
11 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2012 2012
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
135 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2012 2012