Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE The genetic analysis with whole-exome sequencing studies showed no differential mutations of CTNNB1 (β-catenin) and BRAF (V600E) between TC and NC subtypes, but there was a difference between adamantinomatous craniopharyngioma and papillary craniopharyngioma. 31200374

2019

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE The genetic analysis with whole-exome sequencing studies showed no differential mutations of CTNNB1 (β-catenin) and BRAF (V600E) between TC and NC subtypes, but there was a difference between adamantinomatous craniopharyngioma and papillary craniopharyngioma. 31200374

2019

dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE BRAF V600E and CTNNB1 in papCP and adaCP samples were sequenced by next-generation sequencing and the Sanger method, and mRNA expression levels of Axin2 and BMP4 were evaluated by RT-PCR. 30074466

2018

dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE BRAF V600E mutations render PCP susceptible to BRAF/MEK inhibitors, but effective targeted therapies are needed for ACP. 29509940

2018

dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE In this study, we first evaluated BRAF V600E and CTNNB1 mutations in four and 14 cases of pCP and aCP, respectively, using high-resolution melting analysis followed by Sanger sequencing. 28840946

2018

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE BRAF V600E and CTNNB1 in papCP and adaCP samples were sequenced by next-generation sequencing and the Sanger method, and mRNA expression levels of Axin2 and BMP4 were evaluated by RT-PCR. 30074466

2018

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE In this study, we first evaluated BRAF V600E and CTNNB1 mutations in four and 14 cases of pCP and aCP, respectively, using high-resolution melting analysis followed by Sanger sequencing. 28840946

2018

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE BRAF V600E mutations render PCP susceptible to BRAF/MEK inhibitors, but effective targeted therapies are needed for ACP. 29509940

2018

dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE The authors have previously shown high mutation rates of BRAF V600E in papillary craniopharyngioma and of CTNNB1 in adamantinomatous craniopharyngioma. 27903124

2016

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE The authors have previously shown high mutation rates of BRAF V600E in papillary craniopharyngioma and of CTNNB1 in adamantinomatous craniopharyngioma. 27903124

2016

dbSNP: rs111033566
rs111033566
0.010 GeneticVariation BEFREE The percentage of N29I mutations in ACP patients was higher than that reported in other studies, while the percentage of N34S and AAT mutations in ACP and idiopathic CP patients was similar. 19657220

2009

dbSNP: rs111966833
rs111966833
0.010 GeneticVariation BEFREE The P55S mutation was observed in one ICP and one ACP patient, and in three normal individuals. 15082592

2004

dbSNP: rs1223231582
rs1223231582
0.010 GeneticVariation BEFREE One ACP patient (2.2%) was found to carry the most common mutation (N34S) of SPINK1 compared to none of the ALD patients (P=NS). 12939655

2003

dbSNP: rs17107315
rs17107315
0.010 GeneticVariation BEFREE One ACP patient (2.2%) was found to carry the most common mutation (N34S) of SPINK1 compared to none of the ALD patients (P=NS). 12939655

2003