Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140749796
rs140749796
GNA11
CUI: C3809243
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		G 0.800 CausalMutation CLINVAR

dbSNP: rs587777019
rs587777019
GNA11
CUI: C1840347
Disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) 		A 0.800 CausalMutation CLINVAR

dbSNP: rs587777020
rs587777020
GNA11
CUI: C3809243
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		A 0.800 CausalMutation CLINVAR

dbSNP: rs587777021
rs587777021
GNA11
CUI: C3809243
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		T 0.800 CausalMutation CLINVAR

dbSNP: rs587777022
rs587777022
GNA11
CUI: C3809243
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		G 0.800 CausalMutation CLINVAR

dbSNP: rs1057519742
rs1057519742
GNA11
CUI: C0025202
Disease: melanoma
melanoma 		T 0.750 CausalMutation CLINVAR Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. 22808163

2012
dbSNP: rs1057519742
rs1057519742
GNA11
CUI: C0025202
Disease: melanoma
melanoma 		T 0.750 CausalMutation CLINVAR Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540

2012
dbSNP: rs1057519742
rs1057519742
GNA11
CUI: C0025202
Disease: melanoma
melanoma 		C 0.750 CausalMutation CLINVAR Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540

2012
dbSNP: rs1057519742
rs1057519742
GNA11
CUI: C0025202
Disease: melanoma
melanoma 		C 0.750 CausalMutation CLINVAR Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. 22808163

2012
dbSNP: rs1057519742
rs1057519742
GNA11
CUI: C0025202
Disease: melanoma
melanoma 		T 0.750 CausalMutation CLINVAR Mutations in GNA11 in uveal melanoma. 21083380

2010
dbSNP: rs1057519742
rs1057519742
GNA11
CUI: C0025202
Disease: melanoma
melanoma 		C 0.750 CausalMutation CLINVAR Mutations in GNA11 in uveal melanoma. 21083380

2010
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: 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: rs1057519742
rs1057519742
GNA11
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		T 0.730 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs1057519742
rs1057519742
GNA11
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		T 0.730 GeneticVariation CLINVAR Combined PKC and MEK inhibition in uveal melanoma with GNAQ and GNA11 mutations. 24141786

2014
dbSNP: rs1057519742
rs1057519742
GNA11
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		C 0.730 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs1057519742
rs1057519742
GNA11
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		T 0.730 GeneticVariation CLINVAR Therapeutic implications of the emerging molecular biology of uveal melanoma. 21444680

2011
dbSNP: rs1057519742
rs1057519742
GNA11
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs587777707
rs587777707
GNA11
CUI: C3809243
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		T 0.700 CausalMutation CLINVAR

dbSNP: rs672601249
rs672601249
GNA11
CUI: C1840347
Disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) 		A 0.700 CausalMutation CLINVAR