rs28930679
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28930679(A;A) |
Make rs28930679(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 230212397 |
Gene | SP110, SP140 |
is a | snp |
is | mentioned by |
dbSNP | rs28930679 |
dbSNP (classic) | rs28930679 |
ClinGen | rs28930679 |
ebi | rs28930679 |
HLI | rs28930679 |
Exac | rs28930679 |
Gnomad | rs28930679 |
Varsome | rs28930679 |
LitVar | rs28930679 |
Map | rs28930679 |
PheGenI | rs28930679 |
Biobank | rs28930679 |
1000 genomes | rs28930679 |
hgdp | rs28930679 |
ensembl | rs28930679 |
geneview | rs28930679 |
scholar | rs28930679 |
rs28930679 | |
pharmgkb | rs28930679 |
gwascentral | rs28930679 |
openSNP | rs28930679 |
23andMe | rs28930679 |
SNPshot | rs28930679 |
SNPdbe | rs28930679 |
MSV3d | rs28930679 |
GWAS Ctlg | rs28930679 |
GMAF | 0.1703 |
Max Magnitude | 0 |
[PMID 21033425] [Study on relation between Sp110 gene polymorphism and tuberculosis genetic susceptibility of Chongqing Han People]
ClinVar | |
---|---|
Risk | rs28930679(A;A) |
Alt | rs28930679(A;A) |
Reference | Rs28930679(G;G) |
Significance | Non-pathogenic |
Disease | Hepatic venoocclusive disease with immunodeficiency not specified |
Variation | info |
Gene | SP110 LOC101928789 |
CLNDBN | Hepatic venoocclusive disease with immunodeficiency not specified |
Reversed | 0 |
HGVS | NC_000002.11:g.231077112G>A |
CLNSRC | |
CLNACC | RCV000293290.1, RCV000456057.1, |