|
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 |
|
rs148636776
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs483352822
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs757075712
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs6025
|
|
|
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 |
|
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 |
|
rs8099917
|
|
|
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 |
|
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 |
|
rs758865890
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A new factor XI mutation (Gln 47 Pro) has been found in combination with another known mutation (Leu 619 Pro) in a female patient with FXI deficiency and a moderate bleeding tendency.
|
24121361 |
2014 |
|
rs77375493
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, mice developing PV secondary to constitutive JAK2(V617F) expression exhibit a bleeding tendency combined with the accelerated formation of unstable clots, reminiscent of observations made in patients.
|
24951423 |
2014 |
|
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 |
|
rs575627531
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency.
|
19723515 |
2009 |
|
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 |
|
rs72547528
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An Italian patient with moderate to severe bleeding tendency was genotyped, and found to be homozygous for the unique VKORC1 mutation (Arg98Trp) so far detected in VKCFD2.
|
18315553 |
2008 |
|
rs61750610
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The P1824H in the A3 domain is associated with very low VWF levels and with a moderate-to-severe bleeding tendency, unlike the other mutations reported in this domain.
|
16870550 |
2006 |
|
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 |
|
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 |