Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913233
rs121913233
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913233
rs121913233
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913233
rs121913233
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913233
rs121913233
Transitional cell carcinoma of bladder
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913233
rs121913233
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913233
rs121913233
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913233
rs121913233
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913233
rs121913233
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913233
rs121913233
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913233
rs121913233
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913233
rs121913233
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
C 0.700 CausalMutation CLINVAR

dbSNP: rs121913233
rs121913233
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis
C 0.700 CausalMutation CLINVAR

dbSNP: rs121913233
rs121913233
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
C 0.700 CausalMutation CLINVAR Hyperactive Ras in developmental disorders and cancer. 17384584

2007

dbSNP: rs121913233
rs121913233
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
C 0.700 CausalMutation CLINVAR Phase II trial of sorafenib in metastatic thyroid cancer. 19255327

2009

dbSNP: rs121913233
rs121913233
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
C 0.700 CausalMutation CLINVAR Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer. 23406027

2013

dbSNP: rs121913233
rs121913233
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
C 0.700 CausalMutation CLINVAR Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma. 19773371

2009