Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913403
rs121913403
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
A 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913400
rs121913400
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
A 0.800 CausalMutation CLINVAR

dbSNP: rs121913400
rs121913400
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
A 0.800 CausalMutation CLINVAR

dbSNP: rs121913400
rs121913400
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
T 0.800 CausalMutation CLINVAR

dbSNP: rs121913400
rs121913400
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
T 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913400
rs121913400
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
G 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913400
rs121913400
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
A 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913399
rs121913399
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
C 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913396
rs121913396
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
G 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913396
rs121913396
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
G 0.800 CausalMutation CLINVAR

dbSNP: rs121913396
rs121913396
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
C 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913396
rs121913396
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
T 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913228
rs121913228
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
C 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913228
rs121913228
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
C 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913228
rs121913228
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
G 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913228
rs121913228
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
G 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs28931589
rs28931589
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
T 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs28931589
rs28931589
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
C 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs28931589
rs28931589
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs28931589
rs28931589
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
A 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs28931589
rs28931589
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs28931588
rs28931588
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
T 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913399
rs121913399
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
A 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913399
rs121913399
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
C 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs1057519837
rs1057519837
CUI: C0027651
Disease: Neoplasms
Neoplasms
G 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014