rs28929473
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
(A;T) | 3 | carrier for Alpha-1 Antitrypsin Deficiency |
(T;T) | 0 |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 94378575 |
Gene | SERPINA1 |
is a | snp |
is | mentioned by |
dbSNP | rs28929473 |
dbSNP (classic) | rs28929473 |
ClinGen | rs28929473 |
ebi | rs28929473 |
HLI | rs28929473 |
Exac | rs28929473 |
Gnomad | rs28929473 |
Varsome | rs28929473 |
LitVar | rs28929473 |
Map | rs28929473 |
PheGenI | rs28929473 |
Biobank | rs28929473 |
1000 genomes | rs28929473 |
hgdp | rs28929473 |
ensembl | rs28929473 |
geneview | rs28929473 |
scholar | rs28929473 |
rs28929473 | |
pharmgkb | rs28929473 |
gwascentral | rs28929473 |
openSNP | rs28929473 |
23andMe | rs28929473 |
SNPshot | rs28929473 |
SNPdbe | rs28929473 |
MSV3d | rs28929473 |
GWAS Ctlg | rs28929473 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | Rs28929473(T;T) |
Alt | Rs28929473(T;T) |
Reference | Rs28929473(A;A) |
Significance | Other |
Disease | PI NULL(MATTAWA) |
Variation | info |
Gene | SERPINA1 |
CLNDBN | PI NULL(MATTAWA) |
Reversed | 1 |
HGVS | NC_000014.8:g.94844912T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019583.2, |