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rs80356743

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356743(C;T)
Make rs80356743(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position11022587
GeneTARDBP
is asnp
is mentioned by
dbSNPrs80356743
ebirs80356743
HLIrs80356743
Exacrs80356743
Varsomers80356743
Maprs80356743
PheGenIrs80356743
hapmaprs80356743
1000 genomesrs80356743
hgdprs80356743
ensemblrs80356743
gopubmedrs80356743
geneviewrs80356743
scholarrs80356743
googlers80356743
pharmgkbrs80356743
gwascentralrs80356743
openSNPrs80356743
23andMers80356743
23andMe allrs80356743
SNP Nexus

SNPshotrs80356743
SNPdbers80356743
MSV3drs80356743
GWAS Ctlgrs80356743
Max Magnitude0
ClinVar
Risk rs80356743(T;T)
Alt rs80356743(T;T)
Reference rs80356743(C;C)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis type 10
Variation info
Gene TARDBP
CLNDBN Amyotrophic lateral sclerosis type 10
Reversed 0
HGVS NC_000001.11:g.11022587C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020668.1,


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