rs11558261
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | carrier for Alpha-1 Antitrypsin Deficiency |
(G;G) | 0 | common in complete genomics |
Make rs11558261(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 94382823 |
Gene | SERPINA1 |
is a | snp |
is | mentioned by |
dbSNP | rs11558261 |
dbSNP (classic) | rs11558261 |
ClinGen | rs11558261 |
ebi | rs11558261 |
HLI | rs11558261 |
Exac | rs11558261 |
Gnomad | rs11558261 |
Varsome | rs11558261 |
LitVar | rs11558261 |
Map | rs11558261 |
PheGenI | rs11558261 |
Biobank | rs11558261 |
1000 genomes | rs11558261 |
hgdp | rs11558261 |
ensembl | rs11558261 |
geneview | rs11558261 |
scholar | rs11558261 |
rs11558261 | |
pharmgkb | rs11558261 |
gwascentral | rs11558261 |
openSNP | rs11558261 |
23andMe | rs11558261 |
SNPshot | rs11558261 |
SNPdbe | rs11558261 |
MSV3d | rs11558261 |
GWAS Ctlg | rs11558261 |
Merged from | Rs28931571 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs11558261(A;A) |
Alt | rs11558261(A;A) |
Reference | Rs11558261(G;G) |
Significance | Other |
Disease | PI NULL(DEVON) PI Q0(DEVON) PI NULL(NEWPORT) PI Q0(NEWPORT) |
Variation | info |
Gene | SERPINA1 |
CLNDBN | PI NULL(DEVON) PI Q0(DEVON) PI NULL(NEWPORT) PI Q0(NEWPORT) |
Reversed | 1 |
HGVS | NC_000014.8:g.94849160C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019597.4, RCV000019598.4, RCV000019599.4, RCV000019600.4, |