Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75076352
rs75076352
RET
CUI: C0268397
Disease: Amyloidosis, Primary Cutaneous
Amyloidosis, Primary Cutaneous 		0.020 GeneticVariation BEFREE Family 2 showed the C634R mutation only in the index case, who presented with cutaneous lichen amyloidosis in addition to MTC, pheochromocytoma and hyperparathyroidism. 11987030

2002
dbSNP: rs75076352
rs75076352
RET
CUI: C0268397
Disease: Amyloidosis, Primary Cutaneous
Amyloidosis, Primary Cutaneous 		0.020 GeneticVariation BEFREE A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis. 9111993

1997