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rs80356721

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356721(C;C)
Make rs80356721(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11022290
GeneTARDBP
is asnp
is mentioned by
dbSNPrs80356721
ebirs80356721
HLIrs80356721
Exacrs80356721
Varsomers80356721
Maprs80356721
PheGenIrs80356721
hapmaprs80356721
1000 genomesrs80356721
hgdprs80356721
ensemblrs80356721
gopubmedrs80356721
geneviewrs80356721
scholarrs80356721
googlers80356721
pharmgkbrs80356721
gwascentralrs80356721
openSNPrs80356721
23andMers80356721
23andMe allrs80356721
SNP Nexus

SNPshotrs80356721
SNPdbers80356721
MSV3drs80356721
GWAS Ctlgrs80356721
Max Magnitude0
OMIM605078
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80356721(A,C,T;A,C,T)
Alt rs80356721(A,C,T;A,C,T)
Reference rs80356721(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.11082347G>C; NC_000001.10:g.11082347G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005541.3, RCV000020673.1,


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


[PMID 19236453] TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.