rs80338762

Orientation

plus

Stabilized

plus

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

Make rs80338762(C;T)

Make rs80338762(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

77402314

Gene

SEPT9

is a	snp
is	mentioned by
dbSNP	rs80338762
dbSNP (classic)	rs80338762
ClinGen	rs80338762
ebi	rs80338762
HLI	rs80338762
Exac	rs80338762
Gnomad	rs80338762
Varsome	rs80338762
LitVar	rs80338762
Map	rs80338762
PheGenI	rs80338762
Biobank	rs80338762
1000 genomes	rs80338762
hgdp	rs80338762
ensembl	rs80338762
geneview	rs80338762
scholar	rs80338762
google	rs80338762
pharmgkb	rs80338762
gwascentral	rs80338762
openSNP	rs80338762
23andMe	rs80338762
SNPshot	rs80338762
SNPdbe	rs80338762
MSV3d	rs80338762
GWAS Ctlg	rs80338762

Max Magnitude

0

OMIM	604061
Desc
Variant	0002
Related	also

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.