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rs80356730

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356730(A;G)
Make rs80356730(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11022418
GeneTARDBP
is asnp
is mentioned by
dbSNPrs80356730
ebirs80356730
HLIrs80356730
Exacrs80356730
Varsomers80356730
Maprs80356730
PheGenIrs80356730
hapmaprs80356730
1000 genomesrs80356730
hgdprs80356730
ensemblrs80356730
gopubmedrs80356730
geneviewrs80356730
scholarrs80356730
googlers80356730
pharmgkbrs80356730
gwascentralrs80356730
openSNPrs80356730
23andMers80356730
23andMe allrs80356730
SNP Nexus

SNPshotrs80356730
SNPdbers80356730
MSV3drs80356730
GWAS Ctlgrs80356730
Max Magnitude0
OMIM605078
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80356730(G;G)
Alt rs80356730(G;G)
Reference rs80356730(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.11082475A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005539.3,


[PMID 18309045] TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.