Have questions? Visit https://www.reddit.com/r/SNPedia

rs386834142

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGA;GGA) 0 common in clinvar
Make rs386834142(-;-)
Make rs386834142(-;AGG)
Make rs386834142(AGG;AGG)
ReferenceGRCh38 38.1/141
Chromosome6
Position41163038
GeneTREM2
is asnp
is mentioned by
dbSNPrs386834142
ebirs386834142
HLIrs386834142
Exacrs386834142
Varsomers386834142
Maprs386834142
PheGenIrs386834142
hapmaprs386834142
1000 genomesrs386834142
hgdprs386834142
ensemblrs386834142
gopubmedrs386834142
geneviewrs386834142
scholarrs386834142
googlers386834142
pharmgkbrs386834142
gwascentralrs386834142
openSNPrs386834142
23andMers386834142
23andMe allrs386834142
SNP Nexus

SNPshotrs386834142
SNPdbers386834142
MSV3drs386834142
GWAS Ctlgrs386834142
Max Magnitude0
ClinVar
Risk rs386834142(;)
Alt rs386834142(;)
Reference rs386834142(GGA;GGA)
Significance Other
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.41130776_41130778delCCT
CLNSRC ClinVar
CLNACC RCV000050136.2,


[PMID 18546367] Mutations in TREM2 lead to pure early-onset dementia without bone cysts.