rs80356721

Orientation

plus

Stabilized

plus

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

Make rs80356721(C;C)

Make rs80356721(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11022290

Gene

TARDBP

is a	snp
is	mentioned by
dbSNP	rs80356721
dbSNP (classic)	rs80356721
ClinGen	rs80356721
ebi	rs80356721
HLI	rs80356721
Exac	rs80356721
Gnomad	rs80356721
Varsome	rs80356721
LitVar	rs80356721
Map	rs80356721
PheGenI	rs80356721
Biobank	rs80356721
1000 genomes	rs80356721
hgdp	rs80356721
ensembl	rs80356721
geneview	rs80356721
scholar	rs80356721
google	rs80356721
pharmgkb	rs80356721
gwascentral	rs80356721
openSNP	rs80356721
23andMe	rs80356721
SNPshot	rs80356721
SNPdbe	rs80356721
MSV3d	rs80356721
GWAS Ctlg	rs80356721

Max Magnitude

0

OMIM	605078
Desc
Variant	0003
Related	also

ClinVar
Risk	rs80356721(A;A) rs80356721(C;C) rs80356721(T;T)
Alt	rs80356721(A;A) rs80356721(C;C) rs80356721(T;T)
Reference	Rs80356721(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.11082347G>C; NC_000001.10:g.11082347G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005541.3, RCV000020673.1,

[PMID 18309045] TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.

[PMID 19236453] TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.