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rs386834143

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834143(G;T)
Make rs386834143(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position41163043
GeneTREM2
is asnp
is mentioned by
dbSNPrs386834143
ebirs386834143
HLIrs386834143
Exacrs386834143
Varsomers386834143
Maprs386834143
PheGenIrs386834143
hapmaprs386834143
1000 genomesrs386834143
hgdprs386834143
ensemblrs386834143
gopubmedrs386834143
geneviewrs386834143
scholarrs386834143
googlers386834143
pharmgkbrs386834143
gwascentralrs386834143
openSNPrs386834143
23andMers386834143
23andMe allrs386834143
SNP Nexus

SNPshotrs386834143
SNPdbers386834143
MSV3drs386834143
GWAS Ctlgrs386834143
Max Magnitude0
ClinVar
Risk rs386834143(T;T)
Alt rs386834143(T;T)
Reference rs386834143(G;G)
Significance Probable-Pathogenic
Disease Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Variation info
Gene TREM2
CLNDBN Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Reversed 1
HGVS NC_000006.11:g.41130781C>A
CLNSRC ClinVar
CLNACC RCV000050137.1,


[PMID 12925681OA-icon.png] DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features.