rs387906447
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs387906447(-;A) |
Make rs387906447(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154930844 |
Gene | F8 |
is a | snp |
is | mentioned by |
dbSNP | rs387906447 |
dbSNP (classic) | rs387906447 |
ClinGen | rs387906447 |
ebi | rs387906447 |
HLI | rs387906447 |
Exac | rs387906447 |
Gnomad | rs387906447 |
Varsome | rs387906447 |
LitVar | rs387906447 |
Map | rs387906447 |
PheGenI | rs387906447 |
Biobank | rs387906447 |
1000 genomes | rs387906447 |
hgdp | rs387906447 |
ensembl | rs387906447 |
geneview | rs387906447 |
scholar | rs387906447 |
rs387906447 | |
pharmgkb | rs387906447 |
gwascentral | rs387906447 |
openSNP | rs387906447 |
23andMe | rs387906447 |
SNPshot | rs387906447 |
SNPdbe | rs387906447 |
MSV3d | rs387906447 |
GWAS Ctlg | rs387906447 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906447(A;A) |
Alt | rs387906447(A;A) |
Reference | Rs387906447(-;-) |
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.154159120dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010962.5, |