rs104893998
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104893998(A;A) |
Make rs104893998(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 41161421 |
Gene | LOC105375056, TREM2 |
is a | snp |
is | mentioned by |
dbSNP | rs104893998 |
dbSNP (classic) | rs104893998 |
ClinGen | rs104893998 |
ebi | rs104893998 |
HLI | rs104893998 |
Exac | rs104893998 |
Gnomad | rs104893998 |
Varsome | rs104893998 |
LitVar | rs104893998 |
Map | rs104893998 |
PheGenI | rs104893998 |
Biobank | rs104893998 |
1000 genomes | rs104893998 |
hgdp | rs104893998 |
ensembl | rs104893998 |
geneview | rs104893998 |
scholar | rs104893998 |
rs104893998 | |
pharmgkb | rs104893998 |
gwascentral | rs104893998 |
openSNP | rs104893998 |
23andMe | rs104893998 |
SNPshot | rs104893998 |
SNPdbe | rs104893998 |
MSV3d | rs104893998 |
GWAS Ctlg | rs104893998 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
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, |