rs387906452
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 5.5 | Hemophilia A (severity varies) |
(-;TAGA) | 3.5 | Carrier of a Hemophilia A mutation |
(TAGA;TAGA) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154929666 |
Gene | F8 |
is a | snp |
is | mentioned by |
dbSNP | rs387906452 |
dbSNP (classic) | rs387906452 |
ClinGen | rs387906452 |
ebi | rs387906452 |
HLI | rs387906452 |
Exac | rs387906452 |
Gnomad | rs387906452 |
Varsome | rs387906452 |
LitVar | rs387906452 |
Map | rs387906452 |
PheGenI | rs387906452 |
Biobank | rs387906452 |
1000 genomes | rs387906452 |
hgdp | rs387906452 |
ensembl | rs387906452 |
geneview | rs387906452 |
scholar | rs387906452 |
rs387906452 | |
pharmgkb | rs387906452 |
gwascentral | rs387906452 |
openSNP | rs387906452 |
23andMe | rs387906452 |
SNPshot | rs387906452 |
SNPdbe | rs387906452 |
MSV3d | rs387906452 |
GWAS Ctlg | rs387906452 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | Rs387906452(-;-) |
Alt | Rs387906452(-;-) |
Reference | Rs387906452(TAGA;TAGA) |
Significance | Pathogenic |
Disease | Hereditary factor VIII deficiency disease |
Variation | info |
Gene | F8 |
CLNDBN | Hereditary factor VIII deficiency disease |
Reversed | 1 |
HGVS | NC_000023.10:g.154157941_154157944delTCTA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010969.4, |