Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs401681
rs401681
CLPTM1L
CUI: C0025202
Disease: melanoma
melanoma 		A 0.860 GeneticVariation GWASCAT Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011
dbSNP: rs401681
rs401681
CLPTM1L
CUI: C0025202
Disease: melanoma
melanoma 		A 0.860 GeneticVariation GWASDB Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011
dbSNP: rs3219090
rs3219090
PARP1
CUI: C0025202
Disease: melanoma
melanoma 		C 0.820 GeneticVariation GWASCAT We also show evidence suggesting that melanoma associates with 1q42.12 (rs3219090, P = 9.3 × 10(-8)). 21983785

2011
dbSNP: rs3219090
rs3219090
PARP1
CUI: C0025202
Disease: melanoma
melanoma 		C 0.820 GeneticVariation GWASDB We also show evidence suggesting that melanoma associates with 1q42.12 (rs3219090, P = 9.3 × 10(-8)). 21983785

2011
dbSNP: rs45430
rs45430
MX2
CUI: C0025202
Disease: melanoma
melanoma 		T 0.820 GeneticVariation GWASCAT Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 28212542

2017
dbSNP: rs45430
rs45430
MX2
CUI: C0025202
Disease: melanoma
melanoma 		0.820 GeneticVariation GWASDB Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011
dbSNP: rs45430
rs45430
MX2
CUI: C0025202
Disease: melanoma
melanoma 		0.820 GeneticVariation GWASCAT Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011
dbSNP: rs17119461
rs17119461
LINC02627
CUI: C0025202
Disease: melanoma
melanoma 		0.810 GeneticVariation GWASDB A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q. 21706340

2012
dbSNP: rs17119461
rs17119461
LINC02627
CUI: C0025202
Disease: melanoma
melanoma 		0.810 GeneticVariation GWASCAT A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q. 21706340

2012
dbSNP: rs1801516
rs1801516
ATM
CUI: C0025202
Disease: melanoma
melanoma 		0.810 GeneticVariation GWASCAT Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 28212542

2017
dbSNP: rs1801516
rs1801516
ATM
CUI: C0025202
Disease: melanoma
melanoma 		0.810 GeneticVariation GWASDB Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011
dbSNP: rs1801516
rs1801516
ATM
CUI: C0025202
Disease: melanoma
melanoma 		0.810 GeneticVariation GWASCAT Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011
dbSNP: rs4698934
rs4698934
TET2 ; TET2-AS1
CUI: C0025202
Disease: melanoma
melanoma 		0.810 GeneticVariation GWASCAT The SNP rs4698934 was nominally significantly associated with melanoma risk. 24980573

2014
dbSNP: rs4698934
rs4698934
TET2 ; TET2-AS1
CUI: C0025202
Disease: melanoma
melanoma 		0.810 GeneticVariation GWASDB The SNP rs4698934 was nominally significantly associated with melanoma risk. 24980573

2014
dbSNP: rs7023329
rs7023329
MTAP
CUI: C0025202
Disease: melanoma
melanoma 		0.810 GeneticVariation GWASCAT Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 28212542

2017
dbSNP: rs7023329
rs7023329
MTAP
CUI: C0025202
Disease: melanoma
melanoma 		0.810 GeneticVariation GWASDB A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q. 21706340

2012
dbSNP: rs7023329
rs7023329
MTAP
CUI: C0025202
Disease: melanoma
melanoma 		0.810 GeneticVariation GWASDB Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011
dbSNP: rs7023329
rs7023329
MTAP
CUI: C0025202
Disease: melanoma
melanoma 		0.810 GeneticVariation GWASCAT Genome-wide association study identifies three new melanoma susceptibility loci. 21983787

2011
dbSNP: rs7023329
rs7023329
MTAP
CUI: C0025202
Disease: melanoma
melanoma 		A 0.810 GeneticVariation GWASCAT Genome-wide association study identifies three loci associated with melanoma risk. 19578364

2009
dbSNP: rs7023329
rs7023329
MTAP
CUI: C0025202
Disease: melanoma
melanoma 		A 0.810 GeneticVariation GWASDB Genome-wide association study identifies three loci associated with melanoma risk. 19578364

2009
dbSNP: rs910873
rs910873
PIGU
CUI: C0025202
Disease: melanoma
melanoma 		A 0.810 GeneticVariation GWASCAT Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 28212542

2017
dbSNP: rs910873
rs910873
PIGU
CUI: C0025202
Disease: melanoma
melanoma 		T 0.810 GeneticVariation GWASCAT Using pooling, we identified a new melanoma risk locus on chromosome 20 (rs910873 and rs1885120), with replication in two further samples (combined P < 1 x 10(-15)). 18488026

2008
dbSNP: rs910873
rs910873
PIGU
CUI: C0025202
Disease: melanoma
melanoma 		T 0.810 GeneticVariation GWASDB Using pooling, we identified a new melanoma risk locus on chromosome 20 (rs910873 and rs1885120), with replication in two further samples (combined P < 1 x 10(-15)). 18488026

2008
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1057519695
rs1057519695
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		CA 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014