rs28929488
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | |
(G;G) | 0 | common in clinvar |
Make rs28929488(A;A) |
Make rs28929488(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 14 |
Position | 94304471 |
Gene | SERPINA6 |
is a | snp |
is | mentioned by |
dbSNP | rs28929488 |
dbSNP (classic) | rs28929488 |
ClinGen | rs28929488 |
ebi | rs28929488 |
HLI | rs28929488 |
Exac | rs28929488 |
Gnomad | rs28929488 |
Varsome | rs28929488 |
LitVar | rs28929488 |
Map | rs28929488 |
PheGenI | rs28929488 |
Biobank | rs28929488 |
1000 genomes | rs28929488 |
hgdp | rs28929488 |
ensembl | rs28929488 |
geneview | rs28929488 |
scholar | rs28929488 |
rs28929488 | |
pharmgkb | rs28929488 |
gwascentral | rs28929488 |
openSNP | rs28929488 |
23andMe | rs28929488 |
SNPshot | rs28929488 |
SNPdbe | rs28929488 |
MSV3d | rs28929488 |
GWAS Ctlg | rs28929488 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28929488(A;A) |
Alt | rs28929488(A;A) |
Reference | Rs28929488(G;G) |
Significance | Pathogenic |
Disease | Corticosteroid-binding globulin deficiency |
Variation | info |
Gene | SERPINA6 |
CLNDBN | Corticosteroid-binding globulin deficiency |
Reversed | 1 |
HGVS | NC_000014.8:g.94770808C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018496.27, |