Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912651
rs121912651
TP53
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912651
rs121912651
TP53
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		C 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912651
rs121912651
TP53
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.710 GeneticVariation BEFREE In SCLC-6 the mutation resulted in substitution of serine for proline at amino acid 278 and in SCLC-4 substitution of tryptophan for arginine at amino acid 248, both nonconservative amino acid substitutions. 1648702

1991