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rs4884357

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs4884357(A;A)
Make rs4884357(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11022301
GeneTARDBP
is asnp
is mentioned by
dbSNPrs4884357
dbSNP (classic)rs4884357
ClinGenrs4884357
ebirs4884357
HLIrs4884357
Exacrs4884357
Gnomadrs4884357
Varsomers4884357
LitVarrs4884357
Maprs4884357
PheGenIrs4884357
Biobankrs4884357
1000 genomesrs4884357
hgdprs4884357
ensemblrs4884357
geneviewrs4884357
scholarrs4884357
googlers4884357
pharmgkbrs4884357
gwascentralrs4884357
openSNPrs4884357
23andMers4884357
SNPshotrs4884357
SNPdbers4884357
MSV3drs4884357
GWAS Ctlgrs4884357
Max Magnitude0
? (A;A) (A;G) (G;G) 28


OMIM605078
Desc
Variant0005
Relatedalso
ClinVar
Risk rs4884357(A;A)
Alt rs4884357(A;A)
Reference Rs4884357(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.11082358G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005543.4,


[PMID 18396105OA-icon.png] TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.