rs199422210
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199422210(C;G) |
Make rs199422210(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 14 |
Position | 94382686 |
Gene | SERPINA1 |
is a | snp |
is | mentioned by |
dbSNP | rs199422210 |
dbSNP (classic) | rs199422210 |
ClinGen | rs199422210 |
ebi | rs199422210 |
HLI | rs199422210 |
Exac | rs199422210 |
Gnomad | rs199422210 |
Varsome | rs199422210 |
LitVar | rs199422210 |
Map | rs199422210 |
PheGenI | rs199422210 |
Biobank | rs199422210 |
1000 genomes | rs199422210 |
hgdp | rs199422210 |
ensembl | rs199422210 |
geneview | rs199422210 |
scholar | rs199422210 |
rs199422210 | |
pharmgkb | rs199422210 |
gwascentral | rs199422210 |
openSNP | rs199422210 |
23andMe | rs199422210 |
SNPshot | rs199422210 |
SNPdbe | rs199422210 |
MSV3d | rs199422210 |
GWAS Ctlg | rs199422210 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199422210(A;A) rs199422210(G;G) rs199422210(T;T) |
Alt | rs199422210(A;A) rs199422210(G;G) rs199422210(T;T) |
Reference | Rs199422210(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Alpha-1-antitrypsin deficiency |
Variation | info |
Gene | SERPINA1 |
CLNDBN | not specified Alpha-1-antitrypsin deficiency |
Reversed | 1 |
HGVS | NC_000014.8:g.94849023G>A; NC_000014.8:g.94849023G>C |
CLNSRC | |
CLNACC | RCV000388199.1, RCV000169206.1, |