Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853081
rs137853081
STK11
CUI: C0025202
Disease: melanoma
melanoma 		C 0.800 CausalMutation CLINVAR

dbSNP: rs137853080
rs137853080
STK11
CUI: C0025202
Disease: melanoma
melanoma 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121913315
rs121913315
STK11
CUI: C0025202
Disease: melanoma
melanoma 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121909234
rs121909234
PTEN
CUI: C0025202
Disease: melanoma
melanoma 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121909233
rs121909233
PTEN ; KLLN
CUI: C0025202
Disease: melanoma
melanoma 		A 0.800 CausalMutation CLINVAR

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

dbSNP: rs104894097
rs104894097
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma 		G 0.750 CausalMutation CLINVAR

dbSNP: rs869312757
rs869312757
BAP1
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs80358683
rs80358683
BRCA2
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587779826
rs587779826
ATM
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs555607708
rs555607708
CHEK2
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs193922219
rs193922219
FBN1
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs180177132
rs180177132
PALB2
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913323
rs121913323
STK11
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121909232
rs121909232
PTEN
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519742
rs1057519742
GNA11
CUI: C0025202
Disease: melanoma
melanoma 		C 0.750 CausalMutation CLINVAR Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. 1328859

1992
dbSNP: rs1057519742
rs1057519742
GNA11
CUI: C0025202
Disease: melanoma
melanoma 		T 0.750 CausalMutation CLINVAR Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. 1328859

1992
dbSNP: rs121913492
rs121913492
GNAQ
CUI: C0025202
Disease: melanoma
melanoma 		A 0.740 CausalMutation CLINVAR Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. 1328859

1992
dbSNP: rs121913492
rs121913492
GNAQ
CUI: C0025202
Disease: melanoma
melanoma 		G 0.740 CausalMutation CLINVAR Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. 1328859

1992
dbSNP: rs121913492
rs121913492
GNAQ
CUI: C0025202
Disease: melanoma
melanoma 		C 0.740 CausalMutation CLINVAR Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. 1328859

1992
dbSNP: rs121913366
rs121913366
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		T 0.720 CausalMutation CLINVAR [Long-term results following surgery or radioiodine treatment of solitary autonomous adenoma of the thyroid gland]. 2493360

1989
dbSNP: rs1057519742
rs1057519742
GNA11
CUI: C0025202
Disease: melanoma
melanoma 		T 0.750 CausalMutation CLINVAR GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 2549426

1989
dbSNP: rs1057519742
rs1057519742
GNA11
CUI: C0025202
Disease: melanoma
melanoma 		C 0.750 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 		C 0.740 CausalMutation CLINVAR GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 2549426

1989