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rs80338761

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338761(C;T)
Make rs80338761(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position77402298
GeneSEPT9
is asnp
is mentioned by
dbSNPrs80338761
ebirs80338761
HLIrs80338761
Exacrs80338761
Varsomers80338761
Maprs80338761
PheGenIrs80338761
hapmaprs80338761
1000 genomesrs80338761
hgdprs80338761
ensemblrs80338761
gopubmedrs80338761
geneviewrs80338761
scholarrs80338761
googlers80338761
pharmgkbrs80338761
gwascentralrs80338761
openSNPrs80338761
23andMers80338761
23andMe allrs80338761
SNP Nexus

SNPshotrs80338761
SNPdbers80338761
MSV3drs80338761
GWAS Ctlgrs80338761
Max Magnitude0
OMIM604061
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338761(T;T)
Alt rs80338761(T;T)
Reference rs80338761(C;C)
Significance Pathogenic
Disease Amyotrophy
Variation info
Gene SEPT9
CLNDBN Amyotrophy, hereditary neuralgic
Reversed 0
HGVS NC_000017.10:g.75398380C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006221.1,


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


[PMID 18492087] Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study.