rs79781594, RET

N. diseases: 16
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 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.830 1.000 31 1993 2018
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
44 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.820 1.000 30 1993 2017
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
71 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.730 1.000 4 1998 2015
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
38 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.710 1.000 26 1993 2016
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
52 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.700 1.000 15 1994 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.700 1.000 12 1996 2015
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
156 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.700 1.000 1 1999 1999
Multiple Endocrine Neoplasia Type 2b
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
21 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.700 1.000 1 1999 1999
Multiple Endocrine Neoplasia, Type IV
CUI: C1970712
Disease: Multiple Endocrine Neoplasia, Type IV
23 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.700 1.000 1 1999 1999
C-cell hyperplasia of thyroid
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
16 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.030 1.000 3 2013 2019
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.020 1.000 2 2005 2007
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.020 1.000 2 2005 2007
Goiter
CUI: C0018021
Disease: Goiter
19 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.010 1.000 1 2005 2005
Hyperganglionosis
CUI: C0345245
Disease: Hyperganglionosis
1 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.010 1.000 1 2012 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.010 1.000 1 1995 1995