Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356715

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356715(C;T)
Make rs80356715(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position11016874
GeneTARDBP
is asnp
is mentioned by
dbSNPrs80356715
ebirs80356715
HLIrs80356715
Exacrs80356715
Varsomers80356715
Maprs80356715
PheGenIrs80356715
hapmaprs80356715
1000 genomesrs80356715
hgdprs80356715
ensemblrs80356715
gopubmedrs80356715
geneviewrs80356715
scholarrs80356715
googlers80356715
pharmgkbrs80356715
gwascentralrs80356715
openSNPrs80356715
23andMers80356715
23andMe allrs80356715
SNP Nexus

SNPshotrs80356715
SNPdbers80356715
MSV3drs80356715
GWAS Ctlgrs80356715
Max Magnitude0
ClinVar
Risk rs80356715(T;T)
Alt rs80356715(T;T)
Reference rs80356715(C;C)
Significance Non-pathogenic
Disease Amyotrophic lateral sclerosis type 10
Variation info
Gene TARDBP
CLNDBN Amyotrophic lateral sclerosis type 10
Reversed 0
HGVS NC_000001.11:g.11016874C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020670.1,


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

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

[PMID 18505686OA-icon.png] A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro.

[PMID 18545701OA-icon.png] TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.