rs387906522
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs387906522(-;T) |
Make rs387906522(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 46723421 |
Gene | F2 |
is a | snp |
is | mentioned by |
dbSNP | rs387906522 |
dbSNP (classic) | rs387906522 |
ClinGen | rs387906522 |
ebi | rs387906522 |
HLI | rs387906522 |
Exac | rs387906522 |
Gnomad | rs387906522 |
Varsome | rs387906522 |
LitVar | rs387906522 |
Map | rs387906522 |
PheGenI | rs387906522 |
Biobank | rs387906522 |
1000 genomes | rs387906522 |
hgdp | rs387906522 |
ensembl | rs387906522 |
geneview | rs387906522 |
scholar | rs387906522 |
rs387906522 | |
pharmgkb | rs387906522 |
gwascentral | rs387906522 |
openSNP | rs387906522 |
23andMe | rs387906522 |
SNPshot | rs387906522 |
SNPdbe | rs387906522 |
MSV3d | rs387906522 |
GWAS Ctlg | rs387906522 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906522(T;T) |
Alt | rs387906522(T;T) |
Reference | Rs387906522(-;-) |
Significance | Pathogenic |
Disease | Prothrombin deficiency |
Variation | info |
Gene | F2 |
CLNDBN | Prothrombin deficiency, congenital |
Reversed | 0 |
HGVS | NC_000011.9:g.46744971_46744972insT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014236.16, |