rs74799832, RET

N. diseases: 33
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.
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
50 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.040 1.000 4 1997 2019
C-cell hyperplasia of thyroid
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
16 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
Constipation
CUI: C0009806
Disease: Constipation
57 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 0
Familial medullary thyroid carcinoma
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
45 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.770 1.000 7 1996 2018
Ganglioneuromatosis
CUI: C0334595
Disease: Ganglioneuromatosis
1 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.010 1.000 1 1999 1999
Gastrointestinal symptom
CUI: C0426576
Disease: Gastrointestinal symptom
7 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.010 1.000 1 1998 1998
Gingival Overgrowth
CUI: C0376480
Disease: Gingival Overgrowth
5 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 0
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
162 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.020 1.000 2 1999 2009
Hyperparathyroidism, Primary
CUI: C0221002
Disease: Hyperparathyroidism, Primary
39 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 0
Malignant neoplasm of thyroid
CUI: C0007115
Disease: Malignant neoplasm of thyroid
103 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.020 1.000 2 2015 2018
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
71 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.800 1.000 26 1996 2018
Multiple Endocrine Neoplasia
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
11 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
156 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 1.000 1 1995 1995
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
38 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 1.000 8 1994 2016
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
44 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.720 1.000 7 1995 2011
Multiple Endocrine Neoplasia Type 2b
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
21 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.900 0.974 38 1994 2019
Multiple Endocrine Neoplasia, Type IV
CUI: C1970712
Disease: Multiple Endocrine Neoplasia, Type IV
23 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 1.000 1 1995 1995
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.090 1.000 9 2001 2018
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 0
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
204 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.010 1.000 1 2004 2004
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.740 1.000 4 1997 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 0