Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085308047
rs1085308047
PTEN ; KLLN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1085308048
rs1085308048
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1085308049
rs1085308049
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1085308050
rs1085308050
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		TA 0.700 CausalMutation CLINVAR

dbSNP: rs1085308051
rs1085308051
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1085308052
rs1085308052
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs1085308053
rs1085308053
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1085308054
rs1085308054
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1085308055
rs1085308055
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1085308056
rs1085308056
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1131692245
rs1131692245
NPHS1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs113331868
rs113331868
CAMK2A
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1163944538
rs1163944538
TMEM94
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs1178187217
rs1178187217
DNAH11
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs121909218
rs121909218
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121909224
rs121909224
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121909231
rs121909231
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913293
rs121913293
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913294
rs121913294
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121913348
rs121913348
BRAF
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 GeneticVariation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
dbSNP: rs121913355
rs121913355
BRAF
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918470
rs121918470
PTPN11
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. 16638574

2006
dbSNP: rs121918470
rs121918470
PTPN11
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs121918470
rs121918470
PTPN11
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 15948193

2005