Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs926027867
rs926027867
CAMK2A
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs886041065
rs886041065
ASXL2
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886039902
rs886039902
ANKRD11
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs886039900
rs886039900
AHDC1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs876661024
rs876661024
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312697
rs869312697
ARID1B
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs869312669
rs869312669
GRIN2B
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs863225460
rs863225460
PIK3CA
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs863225082
rs863225082
MEA1 ; PPP2R5D
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs786204875
rs786204875
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs786204858
rs786204858
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs786204856
rs786204856
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs786202918
rs786202918
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs782609482
rs782609482
SURF1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs778139192
rs778139192
TICRR ; KIF7
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs764333096
rs764333096
NFIB
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs61752717
rs61752717
MEFV
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs587784177
rs587784177
NSD1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587778779
rs587778779
CYP27A1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016
dbSNP: rs587776667
rs587776667
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs398123316
rs398123316
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs397507483
rs397507483
BRAF
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs34002892
rs34002892
GNPTAB
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. 20880125

2011