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rs367543041

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367543041(C;C)
Make rs367543041(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11022553
GeneTARDBP
is asnp
is mentioned by
dbSNPrs367543041
ebirs367543041
HLIrs367543041
Exacrs367543041
Varsomers367543041
Maprs367543041
PheGenIrs367543041
hapmaprs367543041
1000 genomesrs367543041
hgdprs367543041
ensemblrs367543041
gopubmedrs367543041
geneviewrs367543041
scholarrs367543041
googlers367543041
pharmgkbrs367543041
gwascentralrs367543041
openSNPrs367543041
23andMers367543041
23andMe allrs367543041
SNP Nexus

SNPshotrs367543041
SNPdbers367543041
MSV3drs367543041
GWAS Ctlgrs367543041
Max Magnitude0
ClinVar
Risk rs367543041(A,C;A,C)
Alt rs367543041(A,C;A,C)
Reference rs367543041(G;G)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS
Variation info
Gene TARDBP
CLNDBN Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
Reversed 0
HGVS NC_000001.10:g.11082610G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020663.7, RCV000106321.3,


[PMID 18372902] TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.


[PMID 19224587] High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.


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