rs367543041

Orientation

plus

Stabilized

plus

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

Make rs367543041(C;C)

Make rs367543041(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

11022553

Gene

TARDBP

is a	snp
is	mentioned by
dbSNP	rs367543041
dbSNP (classic)	rs367543041
ClinGen	rs367543041
ebi	rs367543041
HLI	rs367543041
Exac	rs367543041
Gnomad	rs367543041
Varsome	rs367543041
LitVar	rs367543041
Map	rs367543041
PheGenI	rs367543041
Biobank	rs367543041
1000 genomes	rs367543041
hgdp	rs367543041
ensembl	rs367543041
geneview	rs367543041
scholar	rs367543041
google	rs367543041
pharmgkb	rs367543041
gwascentral	rs367543041
openSNP	rs367543041
23andMe	rs367543041
SNPshot	rs367543041
SNPdbe	rs367543041
MSV3d	rs367543041
GWAS Ctlg	rs367543041

Max Magnitude

0

ClinVar
Risk	rs367543041(A;A) rs367543041(C;C)
Alt	rs367543041(A;A) rs367543041(C;C)
Reference	Rs367543041(G;G)
Significance	Pathogenic
Disease	Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS not provided
Variation	info
Gene	TARDBP
CLNDBN	Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED not provided
Reversed	0
HGVS	NC_000001.10:g.11082610G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020663.9, RCV000106321.5, RCV000413910.1,

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

[PMID 19224587] High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

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