rs116929575
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs116929575(A;G) |
Make rs116929575(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 94623782 |
Gene | SERPINA3 |
is a | snp |
is | mentioned by |
dbSNP | rs116929575 |
dbSNP (classic) | rs116929575 |
ClinGen | rs116929575 |
ebi | rs116929575 |
HLI | rs116929575 |
Exac | rs116929575 |
Gnomad | rs116929575 |
Varsome | rs116929575 |
LitVar | rs116929575 |
Map | rs116929575 |
PheGenI | rs116929575 |
Biobank | rs116929575 |
1000 genomes | rs116929575 |
hgdp | rs116929575 |
ensembl | rs116929575 |
geneview | rs116929575 |
scholar | rs116929575 |
rs116929575 | |
pharmgkb | rs116929575 |
gwascentral | rs116929575 |
openSNP | rs116929575 |
23andMe | rs116929575 |
SNPshot | rs116929575 |
SNPdbe | rs116929575 |
MSV3d | rs116929575 |
GWAS Ctlg | rs116929575 |
GMAF | 0.003673 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs116929575(G;G) |
Alt | rs116929575(G;G) |
Reference | Rs116929575(A;A) |
Significance | Pathogenic |
Disease | ANTICHYMOTRYPSIN ISEHARA 1 Peripheral arterial occlusive disease 1 |
Variation | info |
Gene | SERPINA3 |
CLNDBN | ANTICHYMOTRYPSIN ISEHARA 1 Peripheral arterial occlusive disease 1 |
Reversed | 0 |
HGVS | NC_000014.8:g.95090119A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019663.27, RCV000490276.1, |