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rs80356726

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356726(A;A)
Make rs80356726(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11022352
GeneTARDBP
is asnp
is mentioned by
dbSNPrs80356726
dbSNP (classic)rs80356726
ClinGenrs80356726
ebirs80356726
HLIrs80356726
Exacrs80356726
Gnomadrs80356726
Varsomers80356726
LitVarrs80356726
Maprs80356726
PheGenIrs80356726
Biobankrs80356726
1000 genomesrs80356726
hgdprs80356726
ensemblrs80356726
geneviewrs80356726
scholarrs80356726
googlers80356726
pharmgkbrs80356726
gwascentralrs80356726
openSNPrs80356726
23andMers80356726
SNPshotrs80356726
SNPdbers80356726
MSV3drs80356726
GWAS Ctlgrs80356726
Max Magnitude0
OMIM605078
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80356726(A;A)
Alt rs80356726(A;A)
Reference Rs80356726(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.11082409G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005547.3,


[PMID 18288693OA-icon.png] TDP-43 A315T mutation in familial motor neuron disease.