SEPTIN9, septin 9, 10801

N. diseases: 150; N. variants: 26
Disease: AMYOTROPHY, HEREDITARY NEURALGIC ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758280589
rs758280589
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C1834304
Disease:
AMYOTROPHY, HEREDITARY NEURALGIC 		0.010 GeneticVariation BEFREE Two missense mutations were found: c.262C>T (p.Arg88Trp) in seven HNA pedigrees and c.278C>T (p.Ser93Phe) in one HNA pedigree. 19451530 2009