|
rs757075712
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs483352822
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs148636776
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs886043118
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.
|
27117246 |
2018 |
|
rs886043118
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
rs61749397
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These data indicate that the vWD-type 2B mutation p.V1316M is associated with severe thrombocytopathy, which likely contributes to the bleeding tendency in vWD-type 2B.
|
24270421 |
2013 |
|
rs61749397
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We recently demonstrated that a marked defect in agonist-induced activation of the small GTPase, Rap1, and integrin αIIbβ3 in VWD (p.V1316M) type 2B platelets also contributes to the bleeding tendency.
|
29925524 |
2018 |
|
rs104894809
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we studied platelets from GATA1-deficient mice and from a male patient (S14) with a bleeding diathesis attributed to a single amino acid substitution (R216Q) in the N-terminal GATA1 zinc finger that alters binding to DNA.
|
15701726 |
2005 |
|
rs1188383936
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further coagulopathy work-up revealed that she was heterozygous for the prothrombin 20210G/A and homozygous for the methylenetetrahydrofolate reductase (MTHFR) 677C/T mutations.
|
29891045 |
2018 |
|
rs1217691063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further coagulopathy work-up revealed that she was heterozygous for the prothrombin 20210G/A and homozygous for the methylenetetrahydrofolate reductase (MTHFR) 677C/T mutations.
|
29891045 |
2018 |
|
rs121909675
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients with mutation L394R in gamma-glutamyl carboxylase have a severe bleeding disorder because of decreased biological activities of all vitamin K-dependent coagulation proteins.
|
10934213 |
2000 |
|
rs121912713
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency.
|
1569192 |
1992 |
|
rs121965064
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Factor XI deficiency is a rare autosomal recessive coagulopathy, which is, however, common among Ashkenazi Jews, in whom the so-called type II (E117X) and type III (F283L) mutations account for 98% of alleles.
|
18387979 |
2008 |
|
rs1252993409
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we studied platelets from GATA1-deficient mice and from a male patient (S14) with a bleeding diathesis attributed to a single amino acid substitution (R216Q) in the N-terminal GATA1 zinc finger that alters binding to DNA.
|
15701726 |
2005 |
|
rs12979860
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study was to determine whether two polymorphisms of the human interferon lambda 4 (IFNL4) gene (rs12979860 and rs8099917) can predict sustained virologic response (SVR) following antiviral therapy in patients with inherited bleeding disorder and chronic hepatitis C (CHC).
|
27735085 |
2017 |
|
rs1339688889
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The bleeding disorder of patient 1 was attributable to a homozygous Glu102Lys mutation in FXIIIA.
|
11826242 |
2002 |
|
rs1482856709
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hyperhomocyst(e)inemia and a common methylenetetrahydrofolate reductase mutation (Ala223Val MTHFR) in patients with inherited thrombophilic coagulation defects.
|
9409277 |
1997 |
|
rs1801133
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hyperhomocyst(e)inemia and a common methylenetetrahydrofolate reductase mutation (Ala223Val MTHFR) in patients with inherited thrombophilic coagulation defects.
|
9409277 |
1997 |
|
rs2227564
|
|
|
0.010 |
GeneticVariation |
BEFREE |
For instance, in a number of variants related to clotting disorders, the phenotype-associated allele is a human genome reference allele (rs6025, rs6003, rs1799983, and rs2227564 using the assembly hg19).
|
29334895 |
2018 |
|
rs34377097
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we identify a single amino acid substitution (Arg60-->Leu) in the first cytoplasmic loop of the TXA2 receptor in a dominantly inherited bleeding disorder characterized by defective platelet response to TXA2.
|
7929844 |
1994 |
|
rs387906691
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis.
|
19828703 |
2010 |
|
rs387907201
|
|
|
0.010 |
GeneticVariation |
BEFREE |
More recently, in 2011-2012, it was noted that prothrombin defects due to mutations of Arg596 to Leu, Gln, or Trp in exon 15 cause the appearance of a dysprothrombinemia that shows no bleeding tendency but instead a prothrombotic state with venous thrombosis.
|
30428703 |
2018 |
|
rs483352867
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we identify gain-of-function mutations in the cytoplasmic domain of STIM1 (p.R304W) associated with thrombocytopenia, bleeding diathesis, miosis, and tubular myopathy in patients with Stormorken syndrome, and in ORAI1 (p.P245L), associated with a Stormorken-like syndrome of congenital miosis and tubular aggregate myopathy but without hematological abnormalities.
|
24591628 |
2014 |
|
rs557043245
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have identified a patient with a chronic bleeding disorder expressing a homozygous P2RY(12) mutation, predicting an arginine to cysteine (R122C) substitution in the G-protein-coupled P2Y(12) receptor.
|
24612435 |
2014 |
|
rs575627531
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency.
|
19723515 |
2009 |