rs104894002

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6	Alzheimer's, late-onset, possible/predicted

Make rs104894002(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

41161557

Gene	LOC105375056, TREM2

is a	snp
is	mentioned by
dbSNP	rs104894002
dbSNP (classic)	rs104894002
ClinGen	rs104894002
ebi	rs104894002
HLI	rs104894002
Exac	rs104894002
Gnomad	rs104894002
Varsome	rs104894002
LitVar	rs104894002
Map	rs104894002
PheGenI	rs104894002
Biobank	rs104894002
1000 genomes	rs104894002
hgdp	rs104894002
ensembl	rs104894002
geneview	rs104894002
scholar	rs104894002
google	rs104894002
pharmgkb	rs104894002
gwascentral	rs104894002
openSNP	rs104894002
23andMe	rs104894002
SNPshot	rs104894002
SNPdbe	rs104894002
MSV3d	rs104894002
GWAS Ctlg	rs104894002

Max Magnitude

6

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 12754369 ]

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 30924900 ]

OMIM	605086
Desc
Variant	0007
Related	also

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,