rs387906450
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387906450(-;-) |
Make rs387906450(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154930153 |
Gene | F8 |
is a | snp |
is | mentioned by |
dbSNP | rs387906450 |
dbSNP (classic) | rs387906450 |
ClinGen | rs387906450 |
ebi | rs387906450 |
HLI | rs387906450 |
Exac | rs387906450 |
Gnomad | rs387906450 |
Varsome | rs387906450 |
LitVar | rs387906450 |
Map | rs387906450 |
PheGenI | rs387906450 |
Biobank | rs387906450 |
1000 genomes | rs387906450 |
hgdp | rs387906450 |
ensembl | rs387906450 |
geneview | rs387906450 |
scholar | rs387906450 |
rs387906450 | |
pharmgkb | rs387906450 |
gwascentral | rs387906450 |
openSNP | rs387906450 |
23andMe | rs387906450 |
SNPshot | rs387906450 |
SNPdbe | rs387906450 |
MSV3d | rs387906450 |
GWAS Ctlg | rs387906450 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906450(-;-) |
Alt | rs387906450(-;-) |
Reference | Rs387906450(A;A) |
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.154158428delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010966.4, |