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.
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
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
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
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
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
135 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.720 1.000 12 1998 2018
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 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 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 IV
23 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 1.000 1 1995 1995
Constipation
CUI: C0009806
Disease: Constipation
57 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 0
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
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 0
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
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
Short stature
CUI: C0349588
Disease: Short stature
292 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 0
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
83 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 0
Thick vermilion border
CUI: C1836543
Disease: Thick vermilion border
15 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 0
THYROID CARCINOMA, SPORADIC MEDULLARY
11 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.700 0
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
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
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
145 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.030 1.000 3 2001 2018
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
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
Secondary malignant neoplasm of lymph node
188 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.020 1.000 2 2012 2017
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