GP6, glycoprotein VI platelet, 51206

N. diseases: 89; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61658003
rs61658003
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1654425
rs1654425
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C2985280
Disease:
Blood Protein Measurement
C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs1613662
rs1613662
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C0200665
Disease:
Platelet mean volume determination (procedure)
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1613662
rs1613662
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C3828530
Disease:
Platelet Component Distribution Width Measurement
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1671152
rs1671152
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C0206161
Disease:
Reticulocyte count (procedure)
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1671152
rs1671152
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C0032176
Disease:
Platelet aggregation
T 0.700 GeneticVariation GWASDB Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. 20526338 2010
dbSNP: rs199588110
rs199588110
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C3280120
Disease:
Glycoprotein VI deficiency
0.700 GeneticVariation UNIPROT A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder. 19552682 2009
dbSNP: rs199588110
rs199588110
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C3280120
Disease:
Glycoprotein VI deficiency
0.700 GeneticVariation UNIPROT Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. 19549989 2009
dbSNP: rs387906919
rs387906919
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C3280120
Disease:
Glycoprotein VI deficiency
0.700 GeneticVariation UNIPROT Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. 19549989 2009
dbSNP: rs387906919
rs387906919
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C3280120
Disease:
Glycoprotein VI deficiency
0.700 GeneticVariation UNIPROT A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder. 19552682 2009
dbSNP: rs1613662
rs1613662
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C1861172
Disease:
Venous Thromboembolism
0.030 GeneticVariation BEFREE Rs9574, rs1049636, rs2227589 and rs1613662 polymorphisms might be risk factors of VTE. 28353616 2017
dbSNP: rs1613662
rs1613662
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C1861172
Disease:
Venous Thromboembolism
0.030 GeneticVariation BEFREE We investigated the VTE risk associated with SNPs in the GP6 (rs1613662), SERPINC1 (rs2227589), F11 (rs2036914 and rs2289252), FGG (rs2066865), and F12 (rs1801020) genes. 23150947 2013
dbSNP: rs1613662
rs1613662
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C1861172
Disease:
Venous Thromboembolism
0.030 GeneticVariation BEFREE However, using this large cohort of subjects, we were able to replicate the mild effects of 2 nonsynonymous SNPs, rs1613662 in GP6 and rs13146272 in CYP4V2, recently suspected to be associated with VTE. 19278955 2009
dbSNP: rs1654416
rs1654416
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C0085292
Disease:
Stiff-Person Syndrome
0.010 GeneticVariation BEFREE The association analysis showed association of the minor alleles with the SPS manifested by fetal loss as follows-rs1671152 (odds ratio [OR]: 4.667, 95% confidence interval [CI]: 1.462-14.89, P = .006), rs2304167 (OR: 5.085, 95% CI: 1.605-16.10, P = .003), and rs1654416 (OR: 5.085, 95% CI: 1.605-16.10, P = .003). 28041267 2018
dbSNP: rs1654416
rs1654416
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C1840061
Disease:
SMALL PATELLA SYNDROME
0.010 GeneticVariation BEFREE The association analysis showed association of the minor alleles with the SPS manifested by fetal loss as follows-rs1671152 (odds ratio [OR]: 4.667, 95% confidence interval [CI]: 1.462-14.89, P = .006), rs2304167 (OR: 5.085, 95% CI: 1.605-16.10, P = .003), and rs1654416 (OR: 5.085, 95% CI: 1.605-16.10, P = .003). 28041267 2018
dbSNP: rs1671152
rs1671152
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C0085292
Disease:
Stiff-Person Syndrome
0.010 GeneticVariation BEFREE The association analysis showed association of the minor alleles with the SPS manifested by fetal loss as follows-rs1671152 (odds ratio [OR]: 4.667, 95% confidence interval [CI]: 1.462-14.89, P = .006), rs2304167 (OR: 5.085, 95% CI: 1.605-16.10, P = .003), and rs1654416 (OR: 5.085, 95% CI: 1.605-16.10, P = .003). 28041267 2018
dbSNP: rs1671152
rs1671152
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C1840061
Disease:
SMALL PATELLA SYNDROME
0.010 GeneticVariation BEFREE The association analysis showed association of the minor alleles with the SPS manifested by fetal loss as follows-rs1671152 (odds ratio [OR]: 4.667, 95% confidence interval [CI]: 1.462-14.89, P = .006), rs2304167 (OR: 5.085, 95% CI: 1.605-16.10, P = .003), and rs1654416 (OR: 5.085, 95% CI: 1.605-16.10, P = .003). 28041267 2018
dbSNP: rs2304167
rs2304167
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C0085292
Disease:
Stiff-Person Syndrome
0.010 GeneticVariation BEFREE The association analysis showed association of the minor alleles with the SPS manifested by fetal loss as follows-rs1671152 (odds ratio [OR]: 4.667, 95% confidence interval [CI]: 1.462-14.89, P = .006), rs2304167 (OR: 5.085, 95% CI: 1.605-16.10, P = .003), and rs1654416 (OR: 5.085, 95% CI: 1.605-16.10, P = .003). 28041267 2018
dbSNP: rs2304167
rs2304167
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C1840061
Disease:
SMALL PATELLA SYNDROME
0.010 GeneticVariation BEFREE The association analysis showed association of the minor alleles with the SPS manifested by fetal loss as follows-rs1671152 (odds ratio [OR]: 4.667, 95% confidence interval [CI]: 1.462-14.89, P = .006), rs2304167 (OR: 5.085, 95% CI: 1.605-16.10, P = .003), and rs1654416 (OR: 5.085, 95% CI: 1.605-16.10, P = .003). 28041267 2018
dbSNP: rs1671152
rs1671152
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C4552766
Disease:
Miscarriage
0.010 GeneticVariation BEFREE We found a higher occurrence of three SNPs in patients with platelet hyperaggregability and history of miscarriage (rs1671152, rs1654433, rs1671215). 26308704 2015
dbSNP: rs1613662
rs1613662
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C4552766
Disease:
Miscarriage
0.010 GeneticVariation BEFREE These results suggest that variants of GP6 SNPs, namely, rs1671153, rs1654410, rs1654419, and rs1613662, may be associated with risk of recurrent miscarriage. 25086789 2014
dbSNP: rs12610286
rs12610286
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C1840061
Disease:
SMALL PATELLA SYNDROME
0.010 GeneticVariation BEFREE However, both the allele G of SNP rs12610286 (P = 0.029; OR 2.411; CI 1.134-5.123) and one major haplotype (TTGTGA; P = 0.012; OR 2.749; CI 1.223-6.174) were found significantly more frequent in patients with SPS type I in comparison with controls. 23168074 2012
dbSNP: rs12610286
rs12610286
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C0085292
Disease:
Stiff-Person Syndrome
0.010 GeneticVariation BEFREE However, both the allele G of SNP rs12610286 (P = 0.029; OR 2.411; CI 1.134-5.123) and one major haplotype (TTGTGA; P = 0.012; OR 2.749; CI 1.223-6.174) were found significantly more frequent in patients with SPS type I in comparison with controls. 23168074 2012
dbSNP: rs1671153
rs1671153
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C1840061
Disease:
SMALL PATELLA SYNDROME
0.010 GeneticVariation BEFREE We found a higher occurrence of three SNPs of the GP6 gene in SPS patients versus control subjects (rs1671153: 0.204 vs. 0.048, odds ratio [OR] 5.116, 95% confidence interval [CI] 1.536-17.03; rs1654419: 0.204 vs. 0.071, OR 3.326, 95% CI 1.149-9.619; rs1613662: 0.204 vs. 0.071, OR 3.326, 95% CI 1.149-9.619). 22901851 2012
dbSNP: rs1671153
rs1671153
Entrez Id: 51206;107985325
Gene Symbol: GP6;LOC107985325
GP6;LOC107985325
CUI: C0085292
Disease:
Stiff-Person Syndrome
0.010 GeneticVariation BEFREE We found a higher occurrence of three SNPs of the GP6 gene in SPS patients versus control subjects (rs1671153: 0.204 vs. 0.048, odds ratio [OR] 5.116, 95% confidence interval [CI] 1.536-17.03; rs1654419: 0.204 vs. 0.071, OR 3.326, 95% CI 1.149-9.619; rs1613662: 0.204 vs. 0.071, OR 3.326, 95% CI 1.149-9.619). 22901851 2012