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rs386834144

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386834144(C;C)
Make rs386834144(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position41159790
GeneTREM2
is asnp
is mentioned by
dbSNPrs386834144
ebirs386834144
HLIrs386834144
Exacrs386834144
Varsomers386834144
Maprs386834144
PheGenIrs386834144
hapmaprs386834144
1000 genomesrs386834144
hgdprs386834144
ensemblrs386834144
gopubmedrs386834144
geneviewrs386834144
scholarrs386834144
googlers386834144
pharmgkbrs386834144
gwascentralrs386834144
openSNPrs386834144
23andMers386834144
23andMe allrs386834144
SNP Nexus

SNPshotrs386834144
SNPdbers386834144
MSV3drs386834144
GWAS Ctlgrs386834144
Max Magnitude0
ClinVar
Risk rs386834144(C;C)
Alt rs386834144(C;C)
Reference rs386834144(T;T)
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.41127528A>G
CLNSRC ClinVar
CLNACC RCV000050138.1,


[PMID 12080485OA-icon.png] Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.


[PMID 21834902] Nasu-Hakola disease with a splicing mutation of TREM2 in a Japanese family.