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rs756751089

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs756751089(A;G)
Make rs756751089(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position64485466
GeneTBK1
is asnp
is mentioned by
dbSNPrs756751089
dbSNP (classic)rs756751089
ClinGenrs756751089
ebirs756751089
HLIrs756751089
Exacrs756751089
Gnomadrs756751089
Varsomers756751089
LitVarrs756751089
Maprs756751089
PheGenIrs756751089
Biobankrs756751089
1000 genomesrs756751089
hgdprs756751089
ensemblrs756751089
geneviewrs756751089
scholarrs756751089
googlers756751089
pharmgkbrs756751089
gwascentralrs756751089
openSNPrs756751089
23andMers756751089
SNPshotrs756751089
SNPdbers756751089
MSV3drs756751089
GWAS Ctlgrs756751089
Max Magnitude0
ClinVar
Risk rs756751089(G;G)
Alt rs756751089(G;G)
Reference Rs756751089(A;A)
Significance Pathogenic
Disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Variation info
Gene TBK1
CLNDBN Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Reversed 0
HGVS NC_000012.11:g.64879246A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000185601.2,