Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913351
rs121913351
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: rs121913351
rs121913351
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913351
rs121913351
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
A 0.700 CausalMutation CLINVAR

dbSNP: rs121913351
rs121913351
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: rs397507484
rs397507484
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913366
rs121913366
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913366
rs121913366
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913365
rs121913365
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913364
rs121913364
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913357
rs121913357
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913355
rs121913355
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913355
rs121913355
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913355
rs121913355
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs397516896
rs397516896
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs397516896
rs397516896
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913338
rs121913338
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs180177035
rs180177035
CUI: C0002170
Disease: Alopecia
Alopecia
C 0.700 CausalMutation CLINVAR

dbSNP: rs113488022
rs113488022
Arteriovenous Malformations, Cerebral
T 0.700 CausalMutation CLINVAR Somatic mutations in intracranial arteriovenous malformations. 31891627

2019

dbSNP: rs180177038
rs180177038
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum
T 0.700 GeneticVariation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006

dbSNP: rs180177038
rs180177038
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum
T 0.700 GeneticVariation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006

dbSNP: rs180177038
rs180177038
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum
T 0.700 GeneticVariation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009

dbSNP: rs113488022
rs113488022
CUI: C2674727
Disease: ASTROCYTOMA, LOW-GRADE, SOMATIC
ASTROCYTOMA, LOW-GRADE, SOMATIC
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913378
rs121913378
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
G 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
T 0.700 CausalMutation CLINVAR

dbSNP: rs113488022
rs113488022
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
T 0.800 GeneticVariation CLINVAR Targeted therapy for BRAFV600E malignant astrocytoma. 22038996

2011