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rs80338760

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338760(C;C)
Make rs80338760(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position77320193
GeneSEPT9
is asnp
is mentioned by
dbSNPrs80338760
ebirs80338760
HLIrs80338760
Exacrs80338760
Varsomers80338760
Maprs80338760
PheGenIrs80338760
hapmaprs80338760
1000 genomesrs80338760
hgdprs80338760
ensemblrs80338760
gopubmedrs80338760
geneviewrs80338760
scholarrs80338760
googlers80338760
pharmgkbrs80338760
gwascentralrs80338760
openSNPrs80338760
23andMers80338760
23andMe allrs80338760
SNP Nexus

SNPshotrs80338760
SNPdbers80338760
MSV3drs80338760
GWAS Ctlgrs80338760
Max Magnitude0
OMIM604061
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80338760(C;C)
Alt rs80338760(C;C)
Reference rs80338760(G;G)
Significance Pathogenic
Disease Amyotrophy
Variation info
Gene SEPT9
CLNDBN Amyotrophy, hereditary neuralgic
Reversed 0
HGVS NC_000017.10:g.75316275G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006223.1,


[PMID 16186812] Mutations in SEPT9 cause hereditary neuralgic amyotrophy.