Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918470
rs121918470
PTPN11
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 15520399

2004
dbSNP: rs1232880706
rs1232880706
FBN1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1344172059
rs1344172059
ABCC8
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs141322087
rs141322087
ABCC8
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs146838322
rs146838322
TRIT1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553544133
rs1553544133
SATB2
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1554317931
rs1554317931
GLI3
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554639173
rs1554639173
NFIB
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554649366
rs1554649366
NFIB
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		TCA 0.700 CausalMutation CLINVAR

dbSNP: rs1554709654
rs1554709654
NFIB
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1554709662
rs1554709662
NFIB
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1554709683
rs1554709683
NFIB
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1554709792
rs1554709792
NFIB
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554776954
rs1554776954
STXBP1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1554893835
rs1554893835
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1554904159
rs1554904159
BRSK2 ; LOC107984298
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
dbSNP: rs1555483699
rs1555483699
GRIN2A
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555619420
rs1555619420
NF1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		TG 0.700 GeneticVariation CLINVAR

dbSNP: rs1555928716
rs1555928716
RPS6KA3
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1557569831
rs1557569831
SZT2
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1557739557
rs1557739557
MTOR
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1557781252
rs1557781252
GATAD2B
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1562927768
rs1562927768
KMT2E
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 GeneticVariation CLINVAR