rs77939446, RET

N. diseases: 15
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.
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
44 0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 0.830 1.000 26 1994 2017
Familial medullary thyroid carcinoma
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
45 0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 0.800 1.000 8 1996 2017
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
71 0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 0.740 1.000 5 1995 2009
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
38 0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 25 1994 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 7 1994 2016
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
156 0.724 0.120 10 43113622 missense variant G/A;C;T snv 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 0.120 10 43113622 missense variant G/A;C;T snv 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 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 1 1999 1999
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
52 0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 0.700 0
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE
CUI: C4016286
Disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE
2 0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 0.700 0
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 0.030 1.000 3 2005 2012
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 0.030 1.000 3 2005 2012
Columnar Cell Hyperplasia of the Breast
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
2 0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2009 2009
Goiter
CUI: C0018021
Disease: Goiter
19 0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2005 2005
Multiple Endocrine Neoplasia
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
11 0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2005 2005