rs77316810, RET

N. diseases: 10
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
44 0.776 0.200 10 43113654 missense variant T/A;C;G snv 0.830 1.000 12 1994 2017
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
162 0.776 0.200 10 43113654 missense variant T/A;C;G snv 0.760 1.000 33 1994 2017
Familial medullary thyroid carcinoma
45 0.776 0.200 10 43113654 missense variant T/A;C;G snv 0.730 1.000 3 1994 2018
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
38 0.776 0.200 10 43113654 missense variant T/A;C;G snv 0.720 1.000 40 1993 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.776 0.200 10 43113654 missense variant T/A;C;G snv 0.700 1.000 8 1994 2015
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
71 0.776 0.200 10 43113654 missense variant T/A;C;G snv 0.040 1.000 4 1995 2015
Aganglionosis, Colonic
CUI: C0085758
Disease: Aganglionosis, Colonic
11 0.776 0.200 10 43113654 missense variant T/A;C;G snv 0.010 1.000 1 1997 1997
C-cell hyperplasia of thyroid
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
16 0.776 0.200 10 43113654 missense variant T/A;C;G snv 0.010 1.000 1 2018 2018
Gastrointestinal symptom
CUI: C0426576
Disease: Gastrointestinal symptom
7 0.776 0.200 10 43113654 missense variant T/A;C;G snv 0.010 1.000 1 1998 1998
Multiple Endocrine Neoplasia Type 2b
21 0.776 0.200 10 43113654 missense variant T/A;C;G snv 0.010 1.000 1 2011 2011