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rs104894001

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894001(A;A)
Make rs104894001(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position41161522
GeneLOC105375056, TREM2
is asnp
is mentioned by
dbSNPrs104894001
dbSNP (classic)rs104894001
ClinGenrs104894001
ebirs104894001
HLIrs104894001
Exacrs104894001
Gnomadrs104894001
Varsomers104894001
LitVarrs104894001
Maprs104894001
PheGenIrs104894001
Biobankrs104894001
1000 genomesrs104894001
hgdprs104894001
ensemblrs104894001
geneviewrs104894001
scholarrs104894001
googlers104894001
pharmgkbrs104894001
gwascentralrs104894001
openSNPrs104894001
23andMers104894001
SNPshotrs104894001
SNPdbers104894001
MSV3drs104894001
GWAS Ctlgrs104894001
Max Magnitude0
OMIM605086
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894001(A;A)
Alt rs104894001(A;A)
Reference Rs104894001(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.41129260C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005527.2,