rs80356733

Orientation

plus

Stabilized

plus

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

Make rs80356733(G;T)

Make rs80356733(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11022451

Gene

TARDBP

is a	snp
is	mentioned by
dbSNP	rs80356733
dbSNP (classic)	rs80356733
ClinGen	rs80356733
ebi	rs80356733
HLI	rs80356733
Exac	rs80356733
Gnomad	rs80356733
Varsome	rs80356733
LitVar	rs80356733
Map	rs80356733
PheGenI	rs80356733
Biobank	rs80356733
1000 genomes	rs80356733
hgdp	rs80356733
ensembl	rs80356733
geneview	rs80356733
scholar	rs80356733
google	rs80356733
pharmgkb	rs80356733
gwascentral	rs80356733
openSNP	rs80356733
23andMe	rs80356733
SNPshot	rs80356733
SNPdbe	rs80356733
MSV3d	rs80356733
GWAS Ctlg	rs80356733

Max Magnitude

0

OMIM	605078
Desc
Variant	0007
Related	also

ClinVar
Risk	rs80356733(T;T)
Alt	rs80356733(T;T)
Reference	Rs80356733(G;G)
Significance	Pathogenic
Disease	Amyotrophic lateral sclerosis type 10
Variation	info
Gene	TARDBP
CLNDBN	Amyotrophic lateral sclerosis type 10
Reversed	0
HGVS	NC_000001.10:g.11082508G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005545.6,

[PMID 18372902] TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

[PMID 18779421] Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations.