rs1057519903, H3-3A

N. diseases: 28
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
0.720 GeneticVariation BEFREE Additionally, H3F3A K27M was not detected in the 2 diffuse astrocytomas. 24285547 2014
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
0.720 GeneticVariation BEFREE Because H3F3A K27M mutations occur exclusively in pediatric diffuse high-grade astrocytomas, analysis of codon 27 mutational status could be useful in the differential diagnosis of these neoplasms. 23429371 2013