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rs80356723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356723(A;A)
Make rs80356723(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11022292
GeneTARDBP
is asnp
is mentioned by
dbSNPrs80356723
ebirs80356723
HLIrs80356723
Exacrs80356723
Varsomers80356723
Maprs80356723
PheGenIrs80356723
hapmaprs80356723
1000 genomesrs80356723
hgdprs80356723
ensemblrs80356723
gopubmedrs80356723
geneviewrs80356723
scholarrs80356723
googlers80356723
pharmgkbrs80356723
gwascentralrs80356723
openSNPrs80356723
23andMers80356723
23andMe allrs80356723
SNP Nexus

SNPshotrs80356723
SNPdbers80356723
MSV3drs80356723
GWAS Ctlgrs80356723
Max Magnitude0
OMIM605078
Desc
Variant0010
Relatedalso
ClinVar
Risk rs80356723(A,C;A,C)
Alt rs80356723(A,C;A,C)
Reference rs80356723(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.11082349G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020674.3,


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