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rs80356744

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356744(C;C)
Make rs80356744(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position11022737
GeneTARDBP
is asnp
is mentioned by
dbSNPrs80356744
dbSNP (classic)rs80356744
ClinGenrs80356744
ebirs80356744
HLIrs80356744
Exacrs80356744
Gnomadrs80356744
Varsomers80356744
LitVarrs80356744
Maprs80356744
PheGenIrs80356744
Biobankrs80356744
1000 genomesrs80356744
hgdprs80356744
ensemblrs80356744
geneviewrs80356744
scholarrs80356744
googlers80356744
pharmgkbrs80356744
gwascentralrs80356744
openSNPrs80356744
23andMers80356744
SNPshotrs80356744
SNPdbers80356744
MSV3drs80356744
GWAS Ctlgrs80356744
Max Magnitude0
ClinVar
Risk rs80356744(C;C)
Alt rs80356744(C;C)
Reference Rs80356744(T;T)
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.11082794T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020654.1,


[PMID 18931000] Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.