rs28933679
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 2.5 | |
(G;G) | 3 |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154904511 |
Gene | F8 |
is a | snp |
is | mentioned by |
dbSNP | rs28933679 |
dbSNP (classic) | rs28933679 |
ClinGen | rs28933679 |
ebi | rs28933679 |
HLI | rs28933679 |
Exac | rs28933679 |
Gnomad | rs28933679 |
Varsome | rs28933679 |
LitVar | rs28933679 |
Map | rs28933679 |
PheGenI | rs28933679 |
Biobank | rs28933679 |
1000 genomes | rs28933679 |
hgdp | rs28933679 |
ensembl | rs28933679 |
geneview | rs28933679 |
scholar | rs28933679 |
rs28933679 | |
pharmgkb | rs28933679 |
gwascentral | rs28933679 |
openSNP | rs28933679 |
23andMe | rs28933679 |
SNPshot | rs28933679 |
SNPdbe | rs28933679 |
MSV3d | rs28933679 |
GWAS Ctlg | rs28933679 |
Max Magnitude | 3 |
OMIM | 306700 |
Desc | Hemophilia A |
Variant | 0205 |
Related | also |
ClinVar | |
---|---|
Risk | Rs28933679(G;G) |
Alt | Rs28933679(G;G) |
Reference | Rs28933679(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.154132786T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011001.2, |