Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76262710
rs76262710
RET
0.730 GeneticVariation BEFREE A total of 14 missense mutations (10 mutations in men and 4 in women) were identified in cysteine codons 611, 618, and 620 (exon10) in 11 patients and three first-degree relatives as follows: four C611Y (three with FMTC and one relative), one C618R (FMTC), one C618S (sMTC), one C620G (sMTC), four C620R (one with FMTC and three with sMTC), and three C620F (one with FMTC and two relatives). 25694125

2015

dbSNP: rs76262710
rs76262710
RET
C 0.730 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: rs76262710
rs76262710
RET
0.730 GeneticVariation BEFREE C618S developed late onset type of MTC as compared with that of C634R, C634Y and M918T. 9839497

1998

dbSNP: rs76262710
rs76262710
RET
0.730 GeneticVariation BEFREE In this report, we show that Cys 618 Arg mutation cosegregates with familial MTC and HSCR in two Moroccan Jewish families in which no involvement of pheochromocytoma or parathyroidism was observed. 9259198

1997