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rs28939079

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28939079(A;G)
Make rs28939079(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position41159873
GeneLOC105375056, TREM2, TREML1
is asnp
is mentioned by
dbSNPrs28939079
dbSNP (classic)rs28939079
ClinGenrs28939079
ebirs28939079
HLIrs28939079
Exacrs28939079
Gnomadrs28939079
Varsomers28939079
LitVarrs28939079
Maprs28939079
PheGenIrs28939079
Biobankrs28939079
1000 genomesrs28939079
hgdprs28939079
ensemblrs28939079
geneviewrs28939079
scholarrs28939079
googlers28939079
pharmgkbrs28939079
gwascentralrs28939079
openSNPrs28939079
23andMers28939079
SNPshotrs28939079
SNPdbers28939079
MSV3drs28939079
GWAS Ctlgrs28939079
Max Magnitude0
OMIM605086
DescPOLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
Variant0003
Relatedalso


ClinVar
Risk rs28939079(G;G)
Alt rs28939079(G;G)
Reference Rs28939079(A;A)
Significance 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.41127611T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005525.2,