Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10969913
rs10969913 		0.010 GeneticVariation BEFREE Meta-analysis of the European ancestry cohorts identified three genomic signals: single nucleotide polymorphism (SNP) rs17055178 with rectal bleeding (Pmeta=6.2x10-10), rs10969913 with decreased urinary stream (Pmeta=2.9x10-10) and rs11122573 with hematuria (Pmeta=1.8x10-8). 31095341

2020
dbSNP: rs11122573
rs11122573 		0.010 GeneticVariation BEFREE Meta-analysis of the European ancestry cohorts identified three genomic signals: single nucleotide polymorphism (SNP) rs17055178 with rectal bleeding (Pmeta=6.2x10-10), rs10969913 with decreased urinary stream (Pmeta=2.9x10-10) and rs11122573 with hematuria (Pmeta=1.8x10-8). 31095341

2020
dbSNP: rs12118043
rs12118043
FCGR2B
0.010 GeneticVariation BEFREE Associations between FCGR2B rs12118043 and proteinuria (p = 3.65×10(-2)) as well as gross hematuria (p = 4.53×10(-2)), between FCRLB rs4657093 and levels of serum creatinine (p = 2.67×10(-2)) as well as eGFR (p = 5.41*10(-3)) were also observed. 23593433

2013
dbSNP: rs121909585
rs121909585
C3
0.010 GeneticVariation BEFREE Homozygous C3 p.D1115N (C3KI) mice developed spontaneous chronic thrombotic microangiopathy together with hematuria, thrombocytopenia, elevated creatinine, and evidence of hemolysis. 30714990

2019
dbSNP: rs121912861
rs121912861
COL4A4
0.010 GeneticVariation BEFREE Two stop codons (R1377X and 2788/91delG) and a glycine substitution (G960R) resulted in hematuria in all 16 members who were tested from these three families. 12631110

2003
dbSNP: rs1285576172
rs1285576172
COL4A3 ; MFF-DT
0.010 GeneticVariation BEFREE Two stop codons (R1377X and 2788/91delG) and a glycine substitution (G960R) resulted in hematuria in all 16 members who were tested from these three families. 12631110

2003
dbSNP: rs137876000
rs137876000
DECR1
0.010 GeneticVariation BEFREE Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria. 18600544

2008
dbSNP: rs147121532
rs147121532
PGBD5
0.010 GeneticVariation BEFREE Fine scale mapping of these three regions identified another independent signal (rs147121532) associated with hematuria (Pconditional=4.7x10-6). 31095341

2020
dbSNP: rs1695
rs1695
GSTP1
0.010 GeneticVariation BEFREE In addition, patients with the GSTP1 rs1695 AA genotype had an increased risk of irritative voiding symptoms; while patients with the GSTO1 rs4925 CC genotype had a decreased risk of hematuria. 26354850

2015
dbSNP: rs17055178
rs17055178 		0.010 GeneticVariation BEFREE Meta-analysis of the European ancestry cohorts identified three genomic signals: single nucleotide polymorphism (SNP) rs17055178 with rectal bleeding (Pmeta=6.2x10-10), rs10969913 with decreased urinary stream (Pmeta=2.9x10-10) and rs11122573 with hematuria (Pmeta=1.8x10-8). 31095341

2020
dbSNP: rs2277798
rs2277798
UBASH3A
0.010 GeneticVariation BEFREE Moreover, we found that the genotype distribution of rs2277798 was significantly associated with hematuria in the SLE patients (p=0.003). 25843625

2015
dbSNP: rs398123643
rs398123643
COL6A1
0.010 GeneticVariation BEFREE We report a 14-year-old boy who had both Bethlem myopathy and recurrent hematuria and who carried a known de novo COL6A1 missense mutation c.877G > A (p.G293R). 30808312

2019
dbSNP: rs4657093
rs4657093
FCRLB
0.010 GeneticVariation BEFREE Associations between FCGR2B rs12118043 and proteinuria (p = 3.65×10(-2)) as well as gross hematuria (p = 4.53×10(-2)), between FCRLB rs4657093 and levels of serum creatinine (p = 2.67×10(-2)) as well as eGFR (p = 5.41*10(-3)) were also observed. 23593433

2013
dbSNP: rs4925
rs4925
GSTO1
0.010 GeneticVariation BEFREE In addition, patients with the GSTP1 rs1695 AA genotype had an increased risk of irritative voiding symptoms; while patients with the GSTO1 rs4925 CC genotype had a decreased risk of hematuria. 26354850

2015
dbSNP: rs755416212
rs755416212
DPYD
0.010 GeneticVariation BEFREE Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria. 18600544

2008
dbSNP: rs761310536
rs761310536
COL6A2
0.010 GeneticVariation BEFREE We report a 14-year-old boy who had both Bethlem myopathy and recurrent hematuria and who carried a known de novo COL6A1 missense mutation c.877G > A (p.G293R). 30808312

2019
dbSNP: rs769783985
rs769783985
COL4A4
0.010 GeneticVariation BEFREE Two stop codons (R1377X and 2788/91delG) and a glycine substitution (G960R) resulted in hematuria in all 16 members who were tested from these three families. 12631110

2003
dbSNP: rs797044813
rs797044813
CLCN5
0.010 GeneticVariation BEFREE The phenotypes of the two patients with R637X were very similar to those of Japanese patients, i.e., they presented with asymptomatic proteinuria without rickets, renal failure or hematuria. 15719255

2005
dbSNP: rs9644778
rs9644778 		0.010 GeneticVariation BEFREE Besides, marginally significant association of rs9644778 risk genotype with lower proportion of gross hematuria (CC+CA vs AA 35.2% vs 30.2%, P=0.073) was observed. 25675412

2016
dbSNP: rs200287952
rs200287952
COL4A3 ; MFF-DT
A 0.700 GeneticVariation GWASCAT Sequence variants associating with urinary biomarkers. 30476138

2019
dbSNP: rs56254331
rs56254331
TGFB1 ; CCDC97
A 0.700 GeneticVariation GWASCAT Sequence variants associating with urinary biomarkers. 30476138

2019
dbSNP: rs1441937959
rs1441937959
EFL1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556463583
rs1556463583
COL4A5
CA 0.700 GeneticVariation CLINVAR

dbSNP: rs779593707
rs779593707
CLCNKB
CAATA 0.700 GeneticVariation CLINVAR

dbSNP: rs1569497030
rs1569497030
COL4A5
G 0.700 CausalMutation CLINVAR