Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75076352
rs75076352
RET
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: rs75996173
rs75996173
RET
0.020 GeneticVariation BEFREE Among the MEN 2A individuals there was one case with de novo C634R mutation and one case, C634Y, with cutaneous lichen amyloidosis which predated by 24 years the diagnosis of MEN 2A. 9820617

1998
dbSNP: rs75076352
rs75076352
RET
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
dbSNP: rs75996173
rs75996173
RET
0.020 GeneticVariation BEFREE Identification of the Cys634-->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis. 7914213

1994
dbSNP: rs377767397
rs377767397
RET
0.010 GeneticVariation BEFREE The RET C611Y mutation causes MEN 2A and associated cutaneous lichen amyloidosis. 30049837

2018
dbSNP: rs377767398
rs377767398
RET
0.010 GeneticVariation BEFREE The RET C611Y mutation causes MEN 2A and associated cutaneous lichen amyloidosis. 30049837

2018
dbSNP: rs1206969193
rs1206969193
RET
0.010 GeneticVariation BEFREE We noticed that three OSMR p.G513D carriers presenting with CA also had the RET p.S891A mutation. 26356818

2015
dbSNP: rs1421685618
rs1421685618
IL31RA
0.010 GeneticVariation BEFREE We noticed that three OSMR p.G513D carriers presenting with CA also had the RET p.S891A mutation. 26356818

2015
dbSNP: rs202145435
rs202145435
OSMR
0.010 GeneticVariation BEFREE We noticed that three OSMR p.G513D carriers presenting with CA also had the RET p.S891A mutation. 26356818

2015
dbSNP: rs75234356
rs75234356
RET
0.010 GeneticVariation BEFREE We noticed that three OSMR p.G513D carriers presenting with CA also had the RET p.S891A mutation. 26356818

2015
dbSNP: rs958191819
rs958191819
TTR
0.010 GeneticVariation BEFREE This TTR mutation (Tyr78Phe) is associated with peripheral neuropathy, carpal tunnel syndrome and skin amyloidosis. 12762139

2003
dbSNP: rs387906571
rs387906571
APOA1 ; APOA1-AS
0.010 GeneticVariation BEFREE A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis. 10198255

1999