Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338762

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338762(C;T)
Make rs80338762(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position77402314
GeneSEPT9
is asnp
is mentioned by
dbSNPrs80338762
ebirs80338762
HLIrs80338762
Exacrs80338762
Varsomers80338762
Maprs80338762
PheGenIrs80338762
hapmaprs80338762
1000 genomesrs80338762
hgdprs80338762
ensemblrs80338762
gopubmedrs80338762
geneviewrs80338762
scholarrs80338762
googlers80338762
pharmgkbrs80338762
gwascentralrs80338762
openSNPrs80338762
23andMers80338762
23andMe allrs80338762
SNP Nexus

SNPshotrs80338762
SNPdbers80338762
MSV3drs80338762
GWAS Ctlgrs80338762
Max Magnitude0
OMIM604061
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80338762(T;T)
Alt rs80338762(T;T)
Reference rs80338762(C;C)
Significance Pathogenic
Disease Amyotrophy
Variation info
Gene SEPT9
CLNDBN Amyotrophy, hereditary neuralgic
Reversed 0
HGVS NC_000017.10:g.75398396C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006222.1,


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