Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894539
rs104894539
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0750384
Disease:
Coumarin Resistance
A 0.800 CausalMutation CLINVAR
dbSNP: rs104894540
rs104894540
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0750384
Disease:
Coumarin Resistance
G 0.800 CausalMutation CLINVAR
dbSNP: rs104894541
rs104894541
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0750384
Disease:
Coumarin Resistance
C 0.800 CausalMutation CLINVAR
dbSNP: rs72547528
rs72547528
Entrez Id: 79001;339105
Gene Symbol: VKORC1;PRSS53
VKORC1;PRSS53
CUI: C1843832
Disease:
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
A 0.800 CausalMutation CLINVAR
dbSNP: rs72547528
rs72547528
Entrez Id: 79001;339105
Gene Symbol: VKORC1;PRSS53
VKORC1;PRSS53
CUI: C1843832
Disease:
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
0.800 GeneticVariation UNIPROT
dbSNP: rs72547529
rs72547529
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0750384
Disease:
Coumarin Resistance
0.720 GeneticVariation UNIPROT
dbSNP: rs755767348
rs755767348
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0750384
Disease:
Coumarin Resistance
0.700 GeneticVariation UNIPROT
dbSNP: rs770703948
rs770703948
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0750384
Disease:
Coumarin Resistance
0.700 GeneticVariation UNIPROT
dbSNP: rs2359612
rs2359612
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE Additionally, the proportion of the carrier C allele of rs2359612 in the patients with prostate cancer was significantly higher than in the population, suggesting an association between this allele and the risk of having a diagnosis of prostate cancer. 27889279 2017
dbSNP: rs2359612
rs2359612
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE Additionally, the proportion of the carrier C allele of rs2359612 in the patients with prostate cancer was significantly higher than in the population, suggesting an association between this allele and the risk of having a diagnosis of prostate cancer. 27889279 2017
dbSNP: rs72547528
rs72547528
Entrez Id: 79001;339105
Gene Symbol: VKORC1;PRSS53
VKORC1;PRSS53
CUI: C0005779
Disease:
Blood Coagulation Disorders
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
dbSNP: rs2359612
rs2359612
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0007820
Disease:
Cerebrovascular Disorders
0.020 GeneticVariation BEFREE C283 + 837C -> T (rs2359612) genotypes were determined in 49 patients who underwent de novo oral anticoagulation with phenprocoumon for cerebrovascular disease. 19738376 2009
dbSNP: rs72547529
rs72547529
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0750384
Disease:
Coumarin Resistance
0.720 GeneticVariation BEFREE Displacement of Arg37 occurs in the Val66Met mutant, blocking access of warfarin (but not KO) to Site-1, consistent with clinical observation of warfarin resistance. 26513304 2016
dbSNP: rs9923231
rs9923231
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0398623
Disease:
Thrombophilia
0.010 GeneticVariation BEFREE Fifty patients with severe thrombosis and/or thrombophilia requiring permanent anticoagulation, referred to the Helsinki University Hospital Coagulation Center, were screened for thrombophilias and genotyped for CYP2C9*2 (c.430C>T, rs1799853), CYP2C9*3 (c.1075A>C, rs1057910) and VKORC1 c.-1639G>A (rs9923231) variants. 30933373 2019
dbSNP: rs9923231
rs9923231
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C2608079
Disease:
WARFARIN SENSITIVITY (disorder)
0.010 GeneticVariation BEFREE From the 40 SNPs analyzed, CYP2C9 rs17847036 and VKORC1 rs9923231 showed significant association with warfarin sensitivity. 21639946 2011
dbSNP: rs8050894
rs8050894
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0424621
Disease:
Body Fat Distribution
G 0.700 GeneticVariation GWASCAT Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects. 30664634 2019
dbSNP: rs9923231
rs9923231
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0948008
Disease:
Ischemic stroke
0.010 GeneticVariation BEFREE Herein, the association between G-1639A (rs9923231) and C1173T (rs9934438) single-nucleotide polymorphisms (SNPs) of the <i>VKORC1</i> gene and ischemic stroke (IS) was tested in Ukrainian population. 27703968 2016
dbSNP: rs9934438
rs9934438
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0948008
Disease:
Ischemic stroke
0.010 GeneticVariation BEFREE Herein, the association between G-1639A (rs9923231) and C1173T (rs9934438) single-nucleotide polymorphisms (SNPs) of the <i>VKORC1</i> gene and ischemic stroke (IS) was tested in Ukrainian population. 27703968 2016
dbSNP: rs2359612
rs2359612
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0038454
Disease:
Cerebrovascular accident
0.010 GeneticVariation BEFREE In this ethnic group, only two common haplotypes were observed, with the C-allele of the polymorphism rs2359612 (VKORC1: c.283+837C>T) associated with stroke and other cardiovascular diseases. 18841283 2008
dbSNP: rs2359612
rs2359612
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE In this ethnic group, only two common haplotypes were observed, with the C-allele of the polymorphism rs2359612 (VKORC1: c.283+837C>T) associated with stroke and other cardiovascular diseases. 18841283 2008
dbSNP: rs72547529
rs72547529
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0750384
Disease:
Coumarin Resistance
0.720 GeneticVariation BEFREE Mutation analysis identified a Val66Met substitution in vitamin K epoxide reductase complex subunit 1 (VKORC1), consistent with severe warfarin resistance. 20211925 2011
dbSNP: rs104894539
rs104894539
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0750384
Disease:
Coumarin Resistance
0.800 GeneticVariation UNIPROT Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. 14765194 2004
dbSNP: rs104894540
rs104894540
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0750384
Disease:
Coumarin Resistance
0.800 GeneticVariation UNIPROT Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. 14765194 2004
dbSNP: rs104894541
rs104894541
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0750384
Disease:
Coumarin Resistance
0.800 GeneticVariation UNIPROT Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. 14765194 2004
dbSNP: rs61742245
rs61742245
Entrez Id: 79001
Gene Symbol: VKORC1
VKORC1
CUI: C0750384
Disease:
Coumarin Resistance
0.720 GeneticVariation UNIPROT Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. 14765194 2004