Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894481
rs104894481
CUI: C1855796
Disease: Hypoproteinemia, Hypercatabolic
Hypoproteinemia, Hypercatabolic
C 0.800 CausalMutation CLINVAR

dbSNP: rs398122820
rs398122820
B2M
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral
A 0.800 CausalMutation CLINVAR

dbSNP: rs1023835002
rs1023835002
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1023835002
rs1023835002
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1023835002
rs1023835002
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1023835002
rs1023835002
Squamous cell carcinoma of the head and neck
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1023835002
rs1023835002
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: rs1023835002
rs1023835002
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1023835002
rs1023835002
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: rs1023835002
rs1023835002
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1023835002
rs1023835002
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1023835002
rs1023835002
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1023835002
rs1023835002
Squamous cell carcinoma of the head and neck
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1023835002
rs1023835002
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1023835002
rs1023835002
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1023835002
rs1023835002
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1023835002
rs1023835002
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1023835002
rs1023835002
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1023835002
rs1023835002
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1023835002
rs1023835002
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1023835002
rs1023835002
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: rs1023835002
rs1023835002
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1057519877
rs1057519877
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1057519877
rs1057519877
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1057519877
rs1057519877
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016