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rs104893998

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893998(A;A)
Make rs104893998(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position41161421
GeneLOC105375056, TREM2
is asnp
is mentioned by
dbSNPrs104893998
dbSNP (classic)rs104893998
ClinGenrs104893998
ebirs104893998
HLIrs104893998
Exacrs104893998
Gnomadrs104893998
Varsomers104893998
LitVarrs104893998
Maprs104893998
PheGenIrs104893998
Biobankrs104893998
1000 genomesrs104893998
hgdprs104893998
ensemblrs104893998
geneviewrs104893998
scholarrs104893998
googlers104893998
pharmgkbrs104893998
gwascentralrs104893998
openSNPrs104893998
23andMers104893998
SNPshotrs104893998
SNPdbers104893998
MSV3drs104893998
GWAS Ctlgrs104893998
GMAF0.0004591
Max Magnitude0
OMIM605086
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893998(A;A)
Alt rs104893998(A;A)
Reference Rs104893998(G;G)
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.41129159C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005523.2,