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
41 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.850 1.000 14 1986 2016
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
56 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.770 0.857 8 1997 2011
Multiple Endocrine Neoplasia Type 2a
36 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.720 1.000 16 1996 2016
Multiple Endocrine Neoplasia Type 2b
16 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.710 1.000 3 1997 2015
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
125 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.710 1.000 2 2007 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
4866 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.700 17 1995 2017
Congenital central hypoventilation
CUI: C1275808
Disease: Congenital central hypoventilation
10 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.700 1 2015 2015
Hirschsprung disease 1
CUI: C2931876
Disease: Hirschsprung disease 1
18 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.700 1 2015 2015
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
105 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.700 1 1997 1997
Multiple Endocrine Neoplasia, Type IV
20 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.700 1 1997 1997
RENAL ADYSPLASIA
CUI: C1619700
Disease: RENAL ADYSPLASIA
6 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.700 1 2015 2015
Multiple Endocrine Neoplasia
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
8 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.700 0
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
81 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.030 1.000 3 2006 2011
Columnar Cell Hyperplasia of the Breast
2 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.020 1.000 2 2008 2011
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
74 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.020 1.000 2 2011 2012
Hyperparathyroidism, Primary
CUI: C0221002
Disease: Hyperparathyroidism, Primary
17 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.010 1.000 1 2008 2008
Malignant neoplasm of thyroid
CUI: C0007115
Disease: Malignant neoplasm of thyroid
40 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.010 1.000 1 2006 2006
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
6 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.010 1.000 1 2005 2005
Precancerous Conditions
CUI: C0032927
Disease: Precancerous Conditions
9 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.010 1.000 1 2008 2008