rs387906480
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 5.5 | Hemophilia B (severity varies) |
(A;T) | 3.5 | Carrier of a Hemophilia B mutation |
(T;T) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 139530795 |
Gene | F9 |
is a | snp |
is | mentioned by |
dbSNP | rs387906480 |
dbSNP (classic) | rs387906480 |
ClinGen | rs387906480 |
ebi | rs387906480 |
HLI | rs387906480 |
Exac | rs387906480 |
Gnomad | rs387906480 |
Varsome | rs387906480 |
LitVar | rs387906480 |
Map | rs387906480 |
PheGenI | rs387906480 |
Biobank | rs387906480 |
1000 genomes | rs387906480 |
hgdp | rs387906480 |
ensembl | rs387906480 |
geneview | rs387906480 |
scholar | rs387906480 |
rs387906480 | |
pharmgkb | rs387906480 |
gwascentral | rs387906480 |
openSNP | rs387906480 |
23andMe | rs387906480 |
SNPshot | rs387906480 |
SNPdbe | rs387906480 |
MSV3d | rs387906480 |
GWAS Ctlg | rs387906480 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | Rs387906480(A;A) |
Alt | Rs387906480(A;A) |
Reference | Rs387906480(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.138612954T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011401.5, |