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rs3173615

From SNPedia

Orientationplus
Stabilizedplus
Make rs3173615(C;C)
Make rs3173615(C;G)
Make rs3173615(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position12229791
GeneTMEM106B
is asnp
is mentioned by
dbSNPrs3173615
ebirs3173615
HLIrs3173615
Exacrs3173615
Varsomers3173615
Maprs3173615
PheGenIrs3173615
hapmaprs3173615
1000 genomesrs3173615
hgdprs3173615
ensemblrs3173615
gopubmedrs3173615
geneviewrs3173615
scholarrs3173615
googlers3173615
pharmgkbrs3173615
gwascentralrs3173615
openSNPrs3173615
23andMers3173615
23andMe allrs3173615
SNP Nexus

SNPshotrs3173615
SNPdbers3173615
MSV3drs3173615
GWAS Ctlgrs3173615
GMAF0.4513
Max Magnitude
? (C;C) (C;G) (G;G) 28
[PMID 21220649OA-icon.png] Association of TMEM106B Gene Polymorphism With Age at Onset in Granulin Mutation Carriers and Plasma Granulin Protein Levels


[PMID 21354975OA-icon.png] TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort.


GET Evidence
TMEM106B-T185S
aa_change Thr185Ser
aa_change_short T185S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.497303
summary



[PMID 23742080OA-icon.png] TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia


[PMID 24385136OA-icon.png] TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia