SEPTIN9, septin 9, 10801

N. diseases: 150; N. variants: 26
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1075457
rs1075457
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs11650011
rs11650011
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs11658267
rs11658267
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1342513989
rs1342513989
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE We have studied the expression of wild-type- and GTP-binding mutants (G144V and S148N) of the SEPT9_v4 isoform in the MCF7 cell line as a model for its deregulation in neoplasia. 15902694 2005
dbSNP: rs1436138
rs1436138
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C0007222
Disease:
Cardiovascular Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1436138
rs1436138
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1656794
rs1656794
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs2411110
rs2411110
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs312907
rs312907
Entrez Id: 10801;112268199
Gene Symbol: SEPTIN9;LOC112268199
SEPTIN9;LOC112268199
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs367539
rs367539
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C0027051
Disease:
Myocardial Infarction 		0.700 GeneticVariation GWASDB Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations. 21211798 2011
dbSNP: rs3744069
rs3744069
Entrez Id: 10801;112268199
Gene Symbol: SEPTIN9;LOC112268199
SEPTIN9;LOC112268199
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs448203
rs448203
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C0040420
Disease:
Tonometry 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
dbSNP: rs4789452
rs4789452
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C0206161
Disease:
Reticulocyte count (procedure) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs4789452
rs4789452
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs566569
rs566569
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs57927100
rs57927100
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C0871470
Disease:
Systolic Pressure 		G 0.700 GeneticVariation GWASCAT Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. 28739976 2017
dbSNP: rs73373322
rs73373322
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C1318312
Disease:
Serum iron measurement 		C 0.700 GeneticVariation GWASCAT Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? 28334935 2017
dbSNP: rs73373322
rs73373322
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C1277709
Disease:
Transferrin saturation measurement 		C 0.700 GeneticVariation GWASCAT Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? 28334935 2017
dbSNP: rs753318328
rs753318328
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
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
dbSNP: rs80338760
rs80338760
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C1834304
Disease:
AMYOTROPHY, HEREDITARY NEURALGIC 		C 0.700 CausalMutation CLINVAR
dbSNP: rs80338761
rs80338761
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C1834304
Disease:
AMYOTROPHY, HEREDITARY NEURALGIC 		0.850 GeneticVariation UNIPROT After confirming a heterozygous SEPT9 mutation (R88W) in the father and his mother, it became apparent that the dysmorphic features in the children were part of HNA and that previous complaints of the daughter, erroneously diagnosed as pronatio dolorosa and then epiphysiolysis of the capitellum humeri, were in fact a first neuralgic pain attack. 18492087 2008
dbSNP: rs80338761
rs80338761
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C1834304
Disease:
AMYOTROPHY, HEREDITARY NEURALGIC 		0.850 GeneticVariation BEFREE Since SEPT9 is thought to function through interaction with other septins and small GTPase Rho-mediated signaling, we analyzed the properties of HNA-associated SEPT9 missense variants, SEPT9F (c.278C>T/p.Ser93Phe in SEPT9_v3; NM_006640.3) and SEPT9W (c.262C>T/p.Arg88Trp in SEPT9_v3). 17546647 2007
dbSNP: rs80338761
rs80338761
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C1834304
Disease:
AMYOTROPHY, HEREDITARY NEURALGIC 		T 0.850 CausalMutation CLINVAR
dbSNP: rs80338761
rs80338761
Entrez Id: 10801
Gene Symbol: SEPTIN9
SEPTIN9
CUI: C1834304
Disease:
AMYOTROPHY, HEREDITARY NEURALGIC 		0.850 GeneticVariation UNIPROT Mutations in SEPT9 cause hereditary neuralgic amyotrophy. 16186812 2005