rs377767391, 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.
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
162 0.827 0.160 10 43113627 missense variant T/A;C;G snv 0.710 1.000 1 2003 2003
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
38 0.827 0.160 10 43113627 missense variant T/A;C;G snv 0.700 1.000 8 1996 2009
Familial medullary thyroid carcinoma
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
45 0.827 0.160 10 43113627 missense variant T/A;C;G snv 0.700 0
Multiple Endocrine Neoplasia Type 2a
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
44 0.827 0.160 10 43113627 missense variant T/A;C;G snv 0.700 0
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
71 0.827 0.160 10 43113627 missense variant T/A;C;G snv 0.010 1.000 1 2003 2003