rs757953549
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 5.5 | Hemophilia A (severity varies) |
(A;G) | 3 | Carrier of a Factor V deficiency mutation |
(G;G) | 0 | common in clinvar |
Make rs757953549(G;T) |
Make rs757953549(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 169542872 |
Gene | F5 |
is a | snp |
is | mentioned by |
dbSNP | rs757953549 |
dbSNP (classic) | rs757953549 |
ClinGen | rs757953549 |
ebi | rs757953549 |
HLI | rs757953549 |
Exac | rs757953549 |
Gnomad | rs757953549 |
Varsome | rs757953549 |
LitVar | rs757953549 |
Map | rs757953549 |
PheGenI | rs757953549 |
Biobank | rs757953549 |
1000 genomes | rs757953549 |
hgdp | rs757953549 |
ensembl | rs757953549 |
geneview | rs757953549 |
scholar | rs757953549 |
rs757953549 | |
pharmgkb | rs757953549 |
gwascentral | rs757953549 |
openSNP | rs757953549 |
23andMe | rs757953549 |
SNPshot | rs757953549 |
SNPdbe | rs757953549 |
MSV3d | rs757953549 |
GWAS Ctlg | rs757953549 |
Max Magnitude | 5.5 |
ClinVar | |
---|---|
Risk | Rs757953549(A;A) rs757953549(T;T) |
Alt | Rs757953549(A;A) rs757953549(T;T) |
Reference | Rs757953549(G;G) |
Significance | Probable-Pathogenic |
Disease | Factor V deficiency |
Variation | info |
Gene | F5 |
CLNDBN | Factor V deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.169512110G>A |
CLNSRC | Illumina |
CLNACC | RCV000284956.1, |