Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76262710
rs76262710
RET
0.030 GeneticVariation BEFREE An initial report linked HSCR1 in MEN 2A solely to the C618R and C620R RET mutations. 9384613

1998
dbSNP: rs76262710
rs76262710
RET
0.030 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
dbSNP: rs76262710
rs76262710
RET
0.030 GeneticVariation BEFREE In this study, we report on a novel kindred with MEN 2A and HSCR phenotype associated with a point mutation (C618R) in one of the cysteine codons at the extracellular domain of the RET proto-oncogene. 8675603

1996