Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75030001
rs75030001
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.830 GeneticVariation BEFREE The age-related progression of MTC across histopathological groups (normal thyroid/C-cell hyperplasia; node-negative MTC; node-positive MTC) was statistically significant for 13 unique RET mutations (p.Cys611Phe/c.1832G > T; p.Cys611Tyr; p.Cys618Ser/c.1852T > A; p.Cys620Arg; p.Cys634Arg; p.Cys634Phe; p.Cys634Ser; p.Cys634Tyr; p.Glu768Asp; p.Leu790Phe/c.2370G > T; p.Val804Met; p.Ser891Ala; p.Met918Thr), whereas two unique RET mutations (p.Cys618Phe; p.Cys634Gly) trended toward statistical significance. 29656518

2018
dbSNP: rs75030001
rs75030001
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.830 GeneticVariation BEFREE The phenotype of families with Y606C or L790F mutation was categorized as familial medullary thyroid carcinoma. 26254625

2016
dbSNP: rs75030001
rs75030001
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.830 GeneticVariation BEFREE This case report describes three generations of a family with familial medullary thyroid cancer (RET gene mutation L790F). 22965292

2012
dbSNP: rs75030001
rs75030001
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		T 0.830 CausalMutation CLINVAR

dbSNP: rs75030001
rs75030001
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		C 0.830 CausalMutation CLINVAR

dbSNP: rs75030001
rs75030001
RET
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.830 GeneticVariation UNIPROT