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rs11689432

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs11689432(A;A)
Make rs11689432(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position238232864
GeneTARDBP
is asnp
is mentioned by
dbSNPrs11689432
ebirs11689432
HLIrs11689432
Exacrs11689432
Varsomers11689432
Maprs11689432
PheGenIrs11689432
hapmaprs11689432
1000 genomesrs11689432
hgdprs11689432
ensemblrs11689432
gopubmedrs11689432
geneviewrs11689432
scholarrs11689432
googlers11689432
pharmgkbrs11689432
gwascentralrs11689432
openSNPrs11689432
23andMers11689432
23andMe allrs11689432
SNP Nexus

SNPshotrs11689432
SNPdbers11689432
MSV3drs11689432
GWAS Ctlgrs11689432
GMAF0.4679
Max Magnitude0
? (A;A) (A;G) (G;G) 28
ClinVar
Risk rs11689432(A,C;A,C)
Alt rs11689432(A,C;A,C)
Reference rs11689432(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.11082610G>A; NC_000001.10:g.11082610G>C
CLNSRC GeneReviews
CLNACC SCV000041201.1, SCV000041202.1,


[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.

OMIM612069
Desc
Variant
Relatedalso