Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193920817
rs193920817
TP53
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs193920817
rs193920817
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE Tumor analysis revealed two mutations: a TP53 missense mutation c.481G>A (p. Ala161Tyr) and NCOR1 nonsense mutation c.6052C>T (p. Arg2018*). 30039904

2018
dbSNP: rs193920817
rs193920817
TP53
CUI: C0021670
Disease: insulinoma
insulinoma 		0.010 GeneticVariation BEFREE From the INS-1 insulinoma cell line, we established clones conditionally over expressing wild-type (WT) menin or its A160T, H317Y, and A541T variants. 18775714

2008