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rs386834140

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834140(-;-)
Make rs386834140(-;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position41161385
GeneTREM2
is asnp
is mentioned by
dbSNPrs386834140
ClinGenrs386834140
ebirs386834140
HLIrs386834140
Exacrs386834140
Varsomers386834140
Maprs386834140
PheGenIrs386834140
hapmaprs386834140
1000 genomesrs386834140
hgdprs386834140
ensemblrs386834140
gopubmedrs386834140
geneviewrs386834140
scholarrs386834140
googlers386834140
pharmgkbrs386834140
gwascentralrs386834140
openSNPrs386834140
23andMers386834140
23andMe allrs386834140
SNP Nexus

SNPshotrs386834140
SNPdbers386834140
MSV3drs386834140
GWAS Ctlgrs386834140
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs386834140(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.41129123delC
CLNSRC ClinVar
CLNACC RCV000050134.1,


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