rs587777611
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587777611(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 139480871 |
Gene | TMEM173 |
is a | snp |
is | mentioned by |
dbSNP | rs587777611 |
dbSNP (classic) | rs587777611 |
ClinGen | rs587777611 |
ebi | rs587777611 |
HLI | rs587777611 |
Exac | rs587777611 |
Gnomad | rs587777611 |
Varsome | rs587777611 |
LitVar | rs587777611 |
Map | rs587777611 |
PheGenI | rs587777611 |
Biobank | rs587777611 |
1000 genomes | rs587777611 |
hgdp | rs587777611 |
ensembl | rs587777611 |
geneview | rs587777611 |
scholar | rs587777611 |
rs587777611 | |
pharmgkb | rs587777611 |
gwascentral | rs587777611 |
openSNP | rs587777611 |
23andMe | rs587777611 |
SNPshot | rs587777611 |
SNPdbe | rs587777611 |
MSV3d | rs587777611 |
GWAS Ctlg | rs587777611 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777611(C;C) |
Alt | Rs587777611(C;C) |
Reference | Rs587777611(G;G) |
Significance | Pathogenic |
Disease | Sting-associated vasculopathy |
Variation | info |
Gene | TMEM173 |
CLNDBN | Sting-associated vasculopathy, infantile-onset |
Reversed | 1 |
HGVS | NC_000005.9:g.138860456C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000133402.3, |