rs386834143

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs386834143(G;T)

Make rs386834143(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

41163043

Gene	LOC105375056, TREM2

is a	snp
is	mentioned by
dbSNP	rs386834143
dbSNP (classic)	rs386834143
ClinGen	rs386834143
ebi	rs386834143
HLI	rs386834143
Exac	rs386834143
Gnomad	rs386834143
Varsome	rs386834143
LitVar	rs386834143
Map	rs386834143
PheGenI	rs386834143
Biobank	rs386834143
1000 genomes	rs386834143
hgdp	rs386834143
ensembl	rs386834143
geneview	rs386834143
scholar	rs386834143
google	rs386834143
pharmgkb	rs386834143
gwascentral	rs386834143
openSNP	rs386834143
23andMe	rs386834143
SNPshot	rs386834143
SNPdbe	rs386834143
MSV3d	rs386834143
GWAS Ctlg	rs386834143

Max Magnitude

0

ClinVar
Risk	rs386834143(T;T)
Alt	rs386834143(T;T)
Reference	Rs386834143(G;G)
Significance	Probable-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.41130781C>A
CLNSRC	ClinVar
CLNACC	RCV000050137.1,

[PMID 12925681] DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features.