rs80338761

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs80338761(C;T)

Make rs80338761(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

77402298

Gene

SEPT9

is a	snp
is	mentioned by
dbSNP	rs80338761
dbSNP (classic)	rs80338761
ClinGen	rs80338761
ebi	rs80338761
HLI	rs80338761
Exac	rs80338761
Gnomad	rs80338761
Varsome	rs80338761
LitVar	rs80338761
Map	rs80338761
PheGenI	rs80338761
Biobank	rs80338761
1000 genomes	rs80338761
hgdp	rs80338761
ensembl	rs80338761
geneview	rs80338761
scholar	rs80338761
google	rs80338761
pharmgkb	rs80338761
gwascentral	rs80338761
openSNP	rs80338761
23andMe	rs80338761
SNPshot	rs80338761
SNPdbe	rs80338761
MSV3d	rs80338761
GWAS Ctlg	rs80338761

Max Magnitude

0

OMIM	604061
Desc
Variant	0001
Related	also

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.