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

rs104894002

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Alzheimer's, late-onset, possible/predicted
Make rs104894002(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position41161557
GeneLOC105375056, TREM2
is asnp
is mentioned by
dbSNPrs104894002
dbSNP (classic)rs104894002
ClinGenrs104894002
ebirs104894002
HLIrs104894002
Exacrs104894002
Gnomadrs104894002
Varsomers104894002
LitVarrs104894002
Maprs104894002
PheGenIrs104894002
Biobankrs104894002
1000 genomesrs104894002
hgdprs104894002
ensemblrs104894002
geneviewrs104894002
scholarrs104894002
googlers104894002
pharmgkbrs104894002
gwascentralrs104894002
openSNPrs104894002
23andMers104894002
23andMe allrs104894002
SNPshotrs104894002
SNPdbers104894002
MSV3drs104894002
GWAS Ctlgrs104894002
Max Magnitude6

aka c.97C>T (p.Gln33Ter or Q33X)

In 2003, researchers concluded that inheriting two copies of rs104894002(T) led to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2 (PLOSL2), also known as Nasu-Hakola disease.[PMID 12754369OA-icon.png]

More recently (in 2019), a publication concluded that inheriting one copy of the rs104894002(T) allele gives rise to late-onset Alzheimer's disease, with this variant appearing to be a fully penetrant mutation among persons surviving to late age (although the authors admit that this is speculative, given the low number of patients known to date).[PMID 30924900OA-icon.png]

OMIM605086
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894002(T;T)
Alt rs104894002(T;T)
Reference Rs104894002(C;C)
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.41129295G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005529.3,