Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041094
rs886041094
UNC80
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853164
rs878853164
KMT5B
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs869312714
rs869312714
CREBBP
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs869312690
rs869312690
SCN8A
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs80358243
rs80358243
MLC1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs786205861
rs786205861
GCDH
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs786204927
rs786204927
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs786204849
rs786204849
FIBP
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs746200792
rs746200792
SZT2
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs730882244
rs730882244
FAM177A1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		TA 0.700 GeneticVariation CLINVAR

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

dbSNP: rs587776935
rs587776935
AKT3
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs281875196
rs281875196
SMARCA2
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs200473652
rs200473652
UNC80
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1569518070
rs1569518070
COL6A1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1568718508
rs1568718508
RIN2
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		TC 0.700 GeneticVariation CLINVAR

dbSNP: rs1567773470
rs1567773470
GFAP
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1565339091
rs1565339091
HEPACAM ; LOC107984406
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1564365418
rs1564365418
GRIN1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1563183492
rs1563183492
AUTS2
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1562931936
rs1562931936
KMT2E
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 GeneticVariation CLINVAR

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

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

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

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