rs137852260
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 5.5 | Hemophilia B (severity varies) |
(C;T) | 3.5 | Carrier of a Hemophilia B mutation |
(T;T) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 139561829 |
Gene | F9 |
is a | snp |
is | mentioned by |
dbSNP | rs137852260 |
dbSNP (classic) | rs137852260 |
ClinGen | rs137852260 |
ebi | rs137852260 |
HLI | rs137852260 |
Exac | rs137852260 |
Gnomad | rs137852260 |
Varsome | rs137852260 |
LitVar | rs137852260 |
Map | rs137852260 |
PheGenI | rs137852260 |
Biobank | rs137852260 |
1000 genomes | rs137852260 |
hgdp | rs137852260 |
ensembl | rs137852260 |
geneview | rs137852260 |
scholar | rs137852260 |
rs137852260 | |
pharmgkb | rs137852260 |
gwascentral | rs137852260 |
openSNP | rs137852260 |
23andMe | rs137852260 |
SNPshot | rs137852260 |
SNPdbe | rs137852260 |
MSV3d | rs137852260 |
GWAS Ctlg | rs137852260 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | rs137852260(A;A) Rs137852260(C;C) |
Alt | rs137852260(A;A) Rs137852260(C;C) |
Reference | Rs137852260(T;T) |
Significance | Pathogenic |
Disease | Hereditary factor IX deficiency disease |
Variation | info |
Gene | F9 |
CLNDBN | Hereditary factor IX deficiency disease |
Reversed | 0 |
HGVS | NC_000023.10:g.138643988T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011360.5, |