rs377767442, RET

N. diseases: 5
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 0.827 0.160 10 43121967 missense variant A/G snv 0.700 1.000 11 1994 2019
C-cell hyperplasia of thyroid
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
16 0.827 0.160 10 43121967 missense variant A/G snv 0.010 1.000 1 2016 2016
Familial medullary thyroid carcinoma
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
45 0.827 0.160 10 43121967 missense variant A/G snv 0.010 1.000 1 2016 2016
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
71 0.827 0.160 10 43121967 missense variant A/G snv 0.010 1.000 1 2016 2016
Multiple Endocrine Neoplasia Type 2b
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
21 0.827 0.160 10 43121967 missense variant A/G snv 0.010 1.000 1 2016 2016