rs28939079
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs28939079(A;G) |
Make rs28939079(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 41159873 |
Gene | LOC105375056, TREM2, TREML1 |
is a | snp |
is | mentioned by |
dbSNP | rs28939079 |
dbSNP (classic) | rs28939079 |
ClinGen | rs28939079 |
ebi | rs28939079 |
HLI | rs28939079 |
Exac | rs28939079 |
Gnomad | rs28939079 |
Varsome | rs28939079 |
LitVar | rs28939079 |
Map | rs28939079 |
PheGenI | rs28939079 |
Biobank | rs28939079 |
1000 genomes | rs28939079 |
hgdp | rs28939079 |
ensembl | rs28939079 |
geneview | rs28939079 |
scholar | rs28939079 |
rs28939079 | |
pharmgkb | rs28939079 |
gwascentral | rs28939079 |
openSNP | rs28939079 |
23andMe | rs28939079 |
SNPshot | rs28939079 |
SNPdbe | rs28939079 |
MSV3d | rs28939079 |
GWAS Ctlg | rs28939079 |
Max Magnitude | 0 |
OMIM | 605086 |
Desc | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY |
Variant | 0003 |
Related | also |
ClinVar | |
---|---|
Risk | rs28939079(G;G) |
Alt | rs28939079(G;G) |
Reference | Rs28939079(A;A) |
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.41127611T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005525.2, |