Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs8099917
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
dbSNP: rs1339688889
rs1339688889
AAAS
0.010 GeneticVariation BEFREE The bleeding disorder of patient 1 was attributable to a homozygous Glu102Lys mutation in FXIIIA. 11826242

2002
dbSNP: rs575627531
rs575627531
ABCA1
0.010 GeneticVariation BEFREE A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency. 19723515

2009
dbSNP: rs1252993409
rs1252993409
ADRA1A
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
dbSNP: rs148636776
rs148636776
ATXN2 ; SH2B3
A 0.700 CausalMutation CLINVAR

dbSNP: rs121965064
rs121965064
F11
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
dbSNP: rs758865890
rs758865890
F11 ; F11-AS1
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
dbSNP: rs1188383936
rs1188383936
F2
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
dbSNP: rs387907201
rs387907201
F2
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
dbSNP: rs6025
rs6025
F5
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
dbSNP: rs104894809
rs104894809
GATA1
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
dbSNP: rs121909675
rs121909675
GGCX
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
dbSNP: rs759304648
rs759304648
GSN
0.010 GeneticVariation BEFREE Our results suggest that, in addition to amyloid deposition, the G654A gelsolin gene defect causes altered gelsolin-mediated cellular mechanisms, which may contribute, e.g., to bleeding tendency in AGel amyloidosis patients. 10744159

2000
dbSNP: rs12979860
rs12979860
IFNL4
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
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
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
dbSNP: rs780463965
rs780463965
LPAR2
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
dbSNP: rs1217691063
rs1217691063
MTHFR
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
dbSNP: rs1801133
rs1801133
MTHFR
0.010 GeneticVariation BEFREE Hyperhomocyst(e)inemia and a common methylenetetrahydrofolate reductase mutation (Ala223Val MTHFR) in patients with inherited thrombophilic coagulation defects. 9409277

1997
dbSNP: rs557043245
rs557043245
P2RY12 ; MED12L
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
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
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
dbSNP: rs1482856709
rs1482856709
PROS1
0.010 GeneticVariation BEFREE Hyperhomocyst(e)inemia and a common methylenetetrahydrofolate reductase mutation (Ala223Val MTHFR) in patients with inherited thrombophilic coagulation defects. 9409277

1997
dbSNP: rs483352822
rs483352822
RIT1
G 0.700 CausalMutation CLINVAR

dbSNP: rs121912713
rs121912713
SERPINA1
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
dbSNP: rs886043118
rs886043118
STAT1
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
dbSNP: rs886043118
rs886043118
STAT1
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