Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519903
rs1057519903
H3-3A
CUI: C3640999
Disease: High Grade Astrocytic Tumor
High Grade Astrocytic Tumor 		0.010 GeneticVariation BEFREE We herein present the case of an adult cerebellar high-grade astrocytic tumor with H3.1 K27M mutation in a 45-year-old man, which also involvedTP53 mutation and was immunonegative for ATRX. 29264735

2018