Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75234356
rs75234356
RET
G 0.700 GeneticVariation CLINVAR RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor. 15753368

2005
dbSNP: rs77724903
rs77724903
RET
T 0.700 GeneticVariation CLINVAR RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor. 15753368

2005
dbSNP: rs377767404
rs377767404
RET
C 0.700 GeneticVariation CLINVAR The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein. 10490816

1999
dbSNP: rs377767429
rs377767429
RET
TT 0.700 GeneticVariation CLINVAR Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma. 10445857

1999
dbSNP: rs76262710
rs76262710
RET
C 0.700 GeneticVariation CLINVAR The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein. 10490816

1999
dbSNP: rs77939446
rs77939446
RET
A 0.700 GeneticVariation CLINVAR The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein. 10490816

1999
dbSNP: rs79781594
rs79781594
RET
A 0.700 GeneticVariation CLINVAR The Glu632-Leu633 deletion in cysteine rich domain of Ret induces constitutive dimerization and alters the processing of the receptor protein. 10490816

1999
dbSNP: rs77503355
rs77503355
RET
A 0.700 GeneticVariation CLINVAR The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype. 9012462

1997
dbSNP: rs78014899
rs78014899
RET
C 0.700 GeneticVariation CLINVAR Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 9242375

1997
dbSNP: rs79658334
rs79658334
RET
C 0.700 GeneticVariation CLINVAR Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain. 9242375

1997
dbSNP: rs74799832
rs74799832
RET
C 0.700 GeneticVariation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194

1995
dbSNP: rs75076352
rs75076352
RET
C 0.700 GeneticVariation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194

1995
dbSNP: rs75996173
rs75996173
RET
A 0.700 GeneticVariation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194

1995
dbSNP: rs77709286
rs77709286
RET
G 0.700 GeneticVariation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194

1995
dbSNP: rs1060500186
rs1060500186
CDKN1B ; GPR19
T 0.700 CausalMutation CLINVAR

dbSNP: rs121917832
rs121917832
CDKN1B ; GPR19
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555085575
rs1555085575
CDKN1B ; GPR19
GC 0.700 CausalMutation CLINVAR

dbSNP: rs532903617
rs532903617
CDKN1B ; GPR19
G 0.700 CausalMutation CLINVAR

dbSNP: rs774454456
rs774454456
CDKN1B ; GPR19
C 0.700 CausalMutation CLINVAR

dbSNP: rs777354267
rs777354267
CDKN1B ; GPR19
T 0.700 CausalMutation CLINVAR

dbSNP: rs786201007
rs786201007
CDKN1B ; GPR19
GCAGGCGGAGCACCCCAAGC 0.700 CausalMutation CLINVAR

dbSNP: rs786201010
rs786201010
CDKN1B ; GPR19
C 0.700 CausalMutation CLINVAR

dbSNP: rs786201011
rs786201011
CDKN1B ; GPR19
A 0.700 CausalMutation CLINVAR