rs76262710, RET

N. diseases: 17
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 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.870 1.000 34 1993 2018
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
44 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.840 1.000 26 1993 2017
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
52 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.800 1.000 15 1994 2011
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
71 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.730 1.000 4 1997 2015
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
38 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.720 1.000 35 1993 2016
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.720 1.000 2 1997 2005
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.700 1.000 8 1994 2015
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
156 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.700 1.000 1 1999 1999
Multiple Endocrine Neoplasia Type 2b
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
21 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.700 1.000 1 1999 1999
Multiple Endocrine Neoplasia, Type IV
CUI: C1970712
Disease: Multiple Endocrine Neoplasia, Type IV
23 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.700 1.000 1 1999 1999
Congenital central hypoventilation
CUI: C1275808
Disease: Congenital central hypoventilation
15 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.700 0
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
162 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.030 1.000 3 1996 1998
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.020 1.000 2 1997 2005
C-cell hyperplasia of thyroid
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
16 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
Goiter
CUI: C0018021
Disease: Goiter
19 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2005 2005
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 1995 1995