rs118204455
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs118204455(A;G) |
Make rs118204455(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 177406019 |
Gene | F12, SLC34A1 |
is a | snp |
is | mentioned by |
dbSNP | rs118204455 |
dbSNP (classic) | rs118204455 |
ClinGen | rs118204455 |
ebi | rs118204455 |
HLI | rs118204455 |
Exac | rs118204455 |
Gnomad | rs118204455 |
Varsome | rs118204455 |
LitVar | rs118204455 |
Map | rs118204455 |
PheGenI | rs118204455 |
Biobank | rs118204455 |
1000 genomes | rs118204455 |
hgdp | rs118204455 |
ensembl | rs118204455 |
geneview | rs118204455 |
scholar | rs118204455 |
rs118204455 | |
pharmgkb | rs118204455 |
gwascentral | rs118204455 |
openSNP | rs118204455 |
23andMe | rs118204455 |
SNPshot | rs118204455 |
SNPdbe | rs118204455 |
MSV3d | rs118204455 |
GWAS Ctlg | rs118204455 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118204455(G;G) |
Alt | rs118204455(G;G) |
Reference | Rs118204455(A;A) |
Significance | Pathogenic |
Disease | FACTOR XII (TENRI) |
Variation | info |
Gene | F12 |
CLNDBN | FACTOR XII (TENRI) |
Reversed | 1 |
HGVS | NC_000005.9:g.176833020T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001227.3, |