rs377767397, 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 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
38 0.790 0.280 10 43113628 missense variant G/A;C;T snv 0.700 1.000 13 1994 2018
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.790 0.280 10 43113628 missense variant G/A;C;T snv 0.700 1.000 6 1996 2017
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
44 0.790 0.280 10 43113628 missense variant G/A;C;T snv 0.700 0
Familial medullary thyroid carcinoma
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
45 0.790 0.280 10 43113628 missense variant G/A;C;T snv 0.030 1.000 3 2001 2018
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
71 0.790 0.280 10 43113628 missense variant G/A;C;T snv 0.020 1.000 2 2003 2015
Amyloidosis, Primary Cutaneous
CUI: C0268397
Disease: Amyloidosis, Primary Cutaneous
10 0.790 0.280 10 43113628 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
C-cell hyperplasia of thyroid
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
16 0.790 0.280 10 43113628 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
162 0.790 0.280 10 43113628 missense variant G/A;C;T snv 0.010 1.000 1 2003 2003
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.790 0.280 10 43113628 missense variant G/A;C;T snv 0.010 1.000 1 2001 2001
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.790 0.280 10 43113628 missense variant G/A;C;T snv 0.010 1.000 1 2001 2001