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rs80356733

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356733(G;T)
Make rs80356733(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position11022451
GeneTARDBP
is asnp
is mentioned by
dbSNPrs80356733
ebirs80356733
HLIrs80356733
Exacrs80356733
Varsomers80356733
Maprs80356733
PheGenIrs80356733
hapmaprs80356733
1000 genomesrs80356733
hgdprs80356733
ensemblrs80356733
gopubmedrs80356733
geneviewrs80356733
scholarrs80356733
googlers80356733
pharmgkbrs80356733
gwascentralrs80356733
openSNPrs80356733
23andMers80356733
23andMe allrs80356733
SNP Nexus

SNPshotrs80356733
SNPdbers80356733
MSV3drs80356733
GWAS Ctlgrs80356733
Max Magnitude0
OMIM605078
Desc
Variant0007
Relatedalso
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
CLNACC RCV000005545.5,


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


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