rs17876030
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
(G;G) | 0 | common in clinvar |
Make rs17876030(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 177404825 |
Gene | F12, SLC34A1 |
is a | snp |
is | mentioned by |
dbSNP | rs17876030 |
dbSNP (classic) | rs17876030 |
ClinGen | rs17876030 |
ebi | rs17876030 |
HLI | rs17876030 |
Exac | rs17876030 |
Gnomad | rs17876030 |
Varsome | rs17876030 |
LitVar | rs17876030 |
Map | rs17876030 |
PheGenI | rs17876030 |
Biobank | rs17876030 |
1000 genomes | rs17876030 |
hgdp | rs17876030 |
ensembl | rs17876030 |
geneview | rs17876030 |
scholar | rs17876030 |
rs17876030 | |
pharmgkb | rs17876030 |
gwascentral | rs17876030 |
openSNP | rs17876030 |
23andMe | rs17876030 |
SNPshot | rs17876030 |
SNPdbe | rs17876030 |
MSV3d | rs17876030 |
GWAS Ctlg | rs17876030 |
GMAF | 0.05372 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs17876030(C;C) rs17876030(T;T) |
Alt | Rs17876030(C;C) rs17876030(T;T) |
Reference | Rs17876030(G;G) |
Significance | Non-pathogenic |
Disease | not specified Hereditary Angioedema Reduced factor XII activity |
Variation | info |
Gene | F12 |
CLNDBN | not specified Hereditary Angioedema Reduced factor XII activity |
Reversed | 1 |
HGVS | NC_000005.9:g.176831826C>G |
CLNSRC | |
CLNACC | RCV000252303.1, RCV000264675.1, RCV000360167.1, |