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rs80356731

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356731(A;G)
Make rs80356731(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11022437
GeneTARDBP
is asnp
is mentioned by
dbSNPrs80356731
ebirs80356731
HLIrs80356731
Exacrs80356731
Varsomers80356731
Maprs80356731
PheGenIrs80356731
hapmaprs80356731
1000 genomesrs80356731
hgdprs80356731
ensemblrs80356731
gopubmedrs80356731
geneviewrs80356731
scholarrs80356731
googlers80356731
pharmgkbrs80356731
gwascentralrs80356731
openSNPrs80356731
23andMers80356731
23andMe allrs80356731
SNP Nexus

SNPshotrs80356731
SNPdbers80356731
MSV3drs80356731
GWAS Ctlgrs80356731
Max Magnitude0
OMIM605078
Desc
Variant0008
Relatedalso
ClinVar
Risk rs80356731(G;G)
Alt rs80356731(G;G)
Reference rs80356731(A;A)
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.11082494A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005546.3,


[PMID 18438952] TDP-43 mutation in familial amyotrophic lateral sclerosis.