Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1180302996
rs1180302996
PTCH1
0.010 GeneticVariation BEFREE The high rate of c.576G>A silent mutation in GLI1 exon 5 was a feature of MCC. 28551328

2017
dbSNP: rs1275825411
rs1275825411
GLI1
0.010 GeneticVariation BEFREE The high rate of c.576G>A silent mutation in GLI1 exon 5 was a feature of MCC. 28551328

2017
dbSNP: rs2228225
rs2228225
GLI1
0.010 GeneticVariation BEFREE The high rate of c.576G>A silent mutation in GLI1 exon 5 was a feature of MCC. 28551328

2017
dbSNP: rs770138808
rs770138808
SMO
0.010 GeneticVariation BEFREE The high rate of c.576G>A silent mutation in GLI1 exon 5 was a feature of MCC. 28551328

2017
dbSNP: rs780893190
rs780893190
SHH
0.010 GeneticVariation BEFREE The high rate of c.576G>A silent mutation in GLI1 exon 5 was a feature of MCC. 28551328

2017
dbSNP: rs121913680
rs121913680
KIT
0.010 GeneticVariation BEFREE A single heterozygous KIT exon 11 base change resulting in an E583K mutation was discovered in 12 of 18 (66%) examples of MCC. 23621836

2013
dbSNP: rs767132637
rs767132637
PIK3CG
0.010 GeneticVariation BEFREE Sanger sequencing of the primary MCC tumors detected one additional PIK3CA mutation (R19K) that had not been previously described in cancer. 22261808

2012
dbSNP: rs3822214
rs3822214
KIT
0.010 GeneticVariation BEFREE The presence of the M541L KIT variation in MCC warrants further studies for its role in the pathogenesis of this tumor. 21498700

2011
dbSNP: rs113488022
rs113488022
BRAF
0.010 GeneticVariation BEFREE All MCC samples were negative for the B-Raf(V600E) mutation. 16498399

2006
dbSNP: rs121913377
rs121913377
BRAF
0.010 GeneticVariation BEFREE All MCC samples were negative for the B-Raf(V600E) mutation. 16498399

2006