SPTAN1, spectrin alpha, non-erythrocytic 1, 6709

N. diseases: 82; N. variants: 20
Disease: Epileptic encephalopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796053335
rs796053335
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
CUI: C0543888
Disease:
Epileptic encephalopathy 		GGCATGC 0.700 CausalMutation CLINVAR