rs863225263
From SNPedia
Merged into | rs775982338 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCT;TCT) | 0 | common in clinvar |
Make rs863225263(-;-) |
Make rs863225263(-;TTC) |
Make rs863225263(TTC;TTC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 94383010 |
Gene | SERPINA1 |
is a | snp |
is | mentioned by |
dbSNP | rs863225263 |
dbSNP (classic) | rs863225263 |
ClinGen | rs863225263 |
ebi | rs863225263 |
HLI | rs863225263 |
Exac | rs863225263 |
Gnomad | rs863225263 |
Varsome | rs863225263 |
LitVar | rs863225263 |
Map | rs863225263 |
PheGenI | rs863225263 |
Biobank | rs863225263 |
1000 genomes | rs863225263 |
hgdp | rs863225263 |
ensembl | rs863225263 |
geneview | rs863225263 |
scholar | rs863225263 |
rs863225263 | |
pharmgkb | rs863225263 |
gwascentral | rs863225263 |
openSNP | rs863225263 |
23andMe | rs863225263 |
SNPshot | rs863225263 |
SNPdbe | rs863225263 |
MSV3d | rs863225263 |
GWAS Ctlg | rs863225263 |
Status | Merged into rs775982338 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs863225263(TCT;TCT) |
Significance | Pathogenic |
Disease | Alpha-1-antitrypsin deficiency |
Variation | info |
Gene | SERPINA1 |
CLNDBN | Alpha-1-antitrypsin deficiency |
Reversed | 1 |
HGVS | NC_000014.8:g.94849347_94849349delGAA |
CLNSRC | |
CLNACC | RCV000201853.1, |