Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913530
rs121913530
KRAS
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.880 GeneticVariation UNIPROT

dbSNP: rs121913530
rs121913530
KRAS
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		A 0.880 CausalMutation CLINVAR

dbSNP: rs121909071
rs121909071
SLC22A18
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		T 0.800 CausalMutation CLINVAR

dbSNP: rs34424986
rs34424986
PRKN
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		A 0.720 CausalMutation CLINVAR

dbSNP: rs587782705
rs587782705
TP53
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		A 0.700 CausalMutation CLINVAR

dbSNP: rs540635787
rs540635787
CHEK2
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs397516895
rs397516895
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs397507466
rs397507466
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs387906661
rs387906661
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		G 0.700 CausalMutation CLINVAR

dbSNP: rs387906660
rs387906660
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		A 0.700 CausalMutation CLINVAR

dbSNP: rs376526037
rs376526037
ERCC6
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		A 0.700 CausalMutation CLINVAR

dbSNP: rs373227647
rs373227647
ERCC6
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		C 0.700 CausalMutation CLINVAR

dbSNP: rs372594677
rs372594677
EPHA3
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 GeneticVariation UNIPROT

dbSNP: rs2071460
rs2071460
CSNK2A3 ; GALNT18
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 GeneticVariation UNIPROT

dbSNP: rs1805076
rs1805076
PPP2R1B
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		T 0.700 CausalMutation CLINVAR

dbSNP: rs180177042
rs180177042
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs17851045
rs17851045
KRAS
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 GeneticVariation UNIPROT

dbSNP: rs1324578301
rs1324578301
NTRK2
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 GeneticVariation UNIPROT

dbSNP: rs121917902
rs121917902
ERCC6 ; PGBD3
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121917901
rs121917901
ERCC6
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121913281
rs121913281
PIK3CA
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		T 0.700 CausalMutation CLINVAR

dbSNP: rs104894360
rs104894360
KRAS
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		A 0.700 CausalMutation CLINVAR

dbSNP: rs28934576
rs28934576
TP53
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 GeneticVariation BEFREE Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence. 8336941

1993
dbSNP: rs11540652
rs11540652
TP53
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 GeneticVariation BEFREE Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence. 8336941

1993
dbSNP: rs1019340046
rs1019340046
TP53
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 GeneticVariation BEFREE Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence. 8336941

1993