WASF1, WASP family member 1, 8936

N. diseases: 132; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1562159088
rs1562159088
Entrez Id: 8936
Gene Symbol: WASF1
WASF1
CUI: C1843367
Disease:
Poor school performance 		A 0.700 CausalMutation CLINVAR De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. 29961568 2018
dbSNP: rs1562159562
rs1562159562
Entrez Id: 8936
Gene Symbol: WASF1
WASF1
CUI: C1843367
Disease:
Poor school performance 		A 0.700 CausalMutation CLINVAR De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. 29961568 2018
dbSNP: rs1562159599
rs1562159599
Entrez Id: 8936
Gene Symbol: WASF1
WASF1
CUI: C1843367
Disease:
Poor school performance 		CCTGGC 0.700 CausalMutation CLINVAR De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. 29961568 2018
dbSNP: rs1562159088
rs1562159088
Entrez Id: 8936
Gene Symbol: WASF1
WASF1
CUI: C0543888
Disease:
Epileptic encephalopathy 		A 0.700 CausalMutation CLINVAR