Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913492
rs121913492
GNAQ
CUI: C0025202
Disease: melanoma
melanoma 		A 0.740 CausalMutation CLINVAR GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 2549426

1989
dbSNP: rs121913492
rs121913492
GNAQ
CUI: C0025202
Disease: melanoma
melanoma 		G 0.740 CausalMutation CLINVAR GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 2549426

1989
dbSNP: rs11554290
rs11554290
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		C 0.800 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs11554290
rs11554290
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		G 0.800 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs11554290
rs11554290
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		A 0.800 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs1057519695
rs1057519695
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		CA 0.800 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs1057519695
rs1057519695
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		CC 0.800 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs121913254
rs121913254
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		C 0.780 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs121913237
rs121913237
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		G 0.740 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs121913237
rs121913237
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		T 0.740 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs121913237
rs121913237
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		A 0.740 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs121913250
rs121913250
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		A 0.720 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs121913250
rs121913250
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		G 0.720 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs121913250
rs121913250
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		T 0.720 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs121913255
rs121913255
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs121913255
rs121913255
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs121434596
rs121434596
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs121434596
rs121434596
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs121434596
rs121434596
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs121434595
rs121434595
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs121434595
rs121434595
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs121913338
rs121913338
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		G 0.720 GeneticVariation CLINVAR Acute effects of some volatile nitrites on motor performance and lethality in mice. 2872605

1986
dbSNP: rs121913513
rs121913513
KIT
CUI: C0025202
Disease: melanoma
melanoma 		C 0.760 CausalMutation CLINVAR Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines. 7530509

1995
dbSNP: rs1057519710
rs1057519710
KIT
CUI: C0025202
Disease: melanoma
melanoma 		C 0.710 CausalMutation CLINVAR Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines. 7530509

1995
dbSNP: rs121913517
rs121913517
KIT
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 GeneticVariation CLINVAR Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines. 7530509

1995