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rs386834141

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834141(-;-)
Make rs386834141(-;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position41161341
GeneLOC105375056, TREM2
is asnp
is mentioned by
dbSNPrs386834141
dbSNP (classic)rs386834141
ClinGenrs386834141
ebirs386834141
HLIrs386834141
Exacrs386834141
Gnomadrs386834141
Varsomers386834141
LitVarrs386834141
Maprs386834141
PheGenIrs386834141
Biobankrs386834141
1000 genomesrs386834141
hgdprs386834141
ensemblrs386834141
geneviewrs386834141
scholarrs386834141
googlers386834141
pharmgkbrs386834141
gwascentralrs386834141
openSNPrs386834141
23andMers386834141
SNPshotrs386834141
SNPdbers386834141
MSV3drs386834141
GWAS Ctlgrs386834141
Max Magnitude0
ClinVar
Risk rs386834141(-;-)
Alt rs386834141(-;-)
Reference Rs386834141(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.41129079delC
CLNSRC ClinVar
CLNACC RCV000050135.1,


[PMID 15883308] The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.