Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs541458
rs541458
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.760 GeneticVariation BEFREE <b>Background:</b> Phosphatidylinositol binding clathrin assembly protein (<i>PICALM</i>) rs541458 C allele has been identified and validated to be associated with a reduction of Alzheimer's disease (AD) risk. 31133980

2019

dbSNP: rs74315408
rs74315408
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation BEFREE <b>Background:</b> In this study, a known <i>PRNP</i> mutation, Val180Ile (c.G538A), was reported in a 58 years old female patient, clinically diagnosed with Alzheimer's disease (AD). 31410005

2019

dbSNP: rs9357347
rs9357347
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 GeneticVariation BEFREE <b>Conclusion:</b> This study suggested that rs9357347 reduced the risk of AD by modulating both amyloid-β pathology and neuronal degeneration. 31379492

2019

dbSNP: rs671
rs671
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 GeneticVariation BEFREE <b>Conclusions:</b> In conclusion, our meta-analysis indicated that the <i>ALDH2</i> rs671 G>A polymorphism plays an important role in AD development. 30984100

2019

dbSNP: rs2333227
rs2333227
MPO
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation BEFREE <i>MPO</i> rs2333227 polymorphism was positively associated with AD risk, especially under the AA+GA vs. GG and A vs. G genetic models (<i>P</i>=0.042, OR=1.719, 95%CI=1.017-2.906; <i>P</i>=0.041, OR=1.582, 95%CI=1.016-2.463). 29296208

2017

dbSNP: rs1217691063
rs1217691063
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE <i>MTHFR</i> C677T TT and CT genotypes had significant associations with AD risk in all ra</span>cial populations (RR = 1.13, <i>p</i> = 0.0047; and RR = 1.12, <i>p</i> < 0.0001 respectively). 28085050

2017

dbSNP: rs17125944
rs17125944
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.830 GeneticVariation BEFREE (2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI  = 4.03 × 10(-05), pBMI corr  = 2.50 × 10(-03) ; rs3851179 at PICALM; pBMI  = 0.002, rs2075650 at TOMM40/APOE, pBMI  = 0.024, rs3865444 at CD33, pBMI  = 0.024). 24788522

2014

dbSNP: rs3851179
rs3851179
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE (2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI  = 4.03 × 10(-05), pBMI corr  = 2.50 × 10(-03) ; rs3851179 at PICALM; pBMI  = 0.002, rs2075650 at TOMM40/APOE, pBMI  = 0.024, rs3865444 at CD33, pBMI  = 0.024). 24788522

2014

dbSNP: rs2075650
rs2075650
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE (2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI  = 4.03 × 10(-05), pBMI corr  = 2.50 × 10(-03) ; rs3851179 at PICALM; pBMI  = 0.002, rs2075650 at TOMM40/APOE, pBMI  = 0.024, rs3865444 at CD33, pBMI  = 0.024). 24788522

2014

dbSNP: rs3865444
rs3865444
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE (2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI  = 4.03 × 10(-05), pBMI corr  = 2.50 × 10(-03) ; rs3851179 at PICALM; pBMI  = 0.002, rs2075650 at TOMM40/APOE, pBMI  = 0.024, rs3865444 at CD33, pBMI  = 0.024). 24788522

2014

dbSNP: rs1049296
rs1049296
TF
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation BEFREE (2004); J Med Genet 41:261-265] reported that epistatic interaction between rs1049296 (P589S) in the transferrin gene (TF) and rs1800562 (C282Y) in the hemochromatosis gene (HFE) results in significant association with risk for AD. 20029940

2010

dbSNP: rs1800562
rs1800562
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 GeneticVariation BEFREE (2004); J Med Genet 41:261-265] reported that epistatic interaction between rs1049296 (P589S) in the transferrin gene (TF) and rs1800562 (C282Y) in the hemochromatosis gene (HFE) results in significant association with risk for AD. 20029940

2010

dbSNP: rs4836133
rs4836133
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation BEFREE (3) SNPs at two of the obesity risk loci (rs4836133 downstream of ZNF608; pAD  = 0.002 and at rs713586 downstream of RBJ/DNAJC27; pAD  = 0.018) were nominally associated with AD risk. 24788522

2014

dbSNP: rs713586
rs713586
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation BEFREE (3) SNPs at two of the obesity risk loci (rs4836133 downstream of ZNF608; pAD  = 0.002 and at rs713586 downstream of RBJ/DNAJC27; pAD  = 0.018) were nominally associated with AD risk. 24788522

2014

dbSNP: rs7493
rs7493
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.030 GeneticVariation BEFREE (3-8) The importance of cardiovascular risk factors in the pathomechanism of Alzheimer's disease (AD) and vascular dementia (VD)(9-13) prompted us to examine the genetic effect of PON2 gene codon 311 (Cys-->Ser; PON2*S) polymorphism and the relationship between the PON2*S allele and the other dementia risk factor, the apoE polymorphism in these dementias. 11803456

2002

dbSNP: rs4756
rs4756
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation BEFREE 14 SNPs showed no variability in AD and control populations, while two SNPs rs4756 and rs2228162 showed the three genotypes. 23241556

2013

dbSNP: rs2228162
rs2228162
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation BEFREE 14 SNPs showed no variability in AD and control populations, while two SNPs rs4756 and rs2228162</span> showed the three genotypes. 23241556

2013

dbSNP: rs3132293
rs3132293
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation BEFREE 24S-Hydroxycholesterol CSF and plasma levels were also influenced by rs3132293 (CSF: P= 0.004; plasma: P= 0.001) and the TGC haplotype (CSF: P= 0.004; plasma: P= 0.002); this effect was most pronounced in AD patients (rs3132293: CSF: P= 0.009, plasma: P= 0.002; TGC haplotype: CSF: P= 0.019, plasma: P= 0.005). 19374686

2009

dbSNP: rs6313
rs6313
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation BEFREE 5-HT2A T102C receptor polymorphism and neuropsychiatric symptoms in Alzheimer's disease. 15211529

2004

dbSNP: rs63751163
rs63751163
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 GeneticVariation BEFREE Alzheimer's disease presenilin-1 exon 9 deletion and L250S mutations sensitize SH-SY5Y neuroblastoma cells to hyperosmotic stress-induced apoptosis. 10658639

2000

dbSNP: rs63750424
rs63750424
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 GeneticVariation BEFREE Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation. 18284428

2008

dbSNP: rs5848
rs5848
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.080 GeneticVariation BEFREE Alzheimer's Disease Neuroimaging Initiative cohort (ADNI; n=237) data, combining both multiplexed proteomics CSF and genotype data, were used to assess the association between CSF analytes and risk SNPs in four genes (SNPs): GRN (rs5848), TMEM106B (rs1990622), ABCC9 (rs704180), and KCNMB2 (rs9637454). 28189700

2017

dbSNP: rs1990622
rs1990622
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.030 GeneticVariation BEFREE Alzheimer's Disease Neuroimaging Initiative cohort (ADNI; n=237) data, combining both multiplexed proteomics CSF and genotype data, were used to assess the association between CSF analytes and risk SNPs in four genes (SNPs): GRN (rs5848), TMEM106B (rs1990622), ABCC9 (rs704180), and KCNMB2 (rs9637454). 28189700

2017

dbSNP: rs704180
rs704180
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 GeneticVariation BEFREE Alzheimer's Disease Neuroimaging Initiative cohort (ADNI; n=237) data, combining both multiplexed proteomics CSF and genotype data, were used to assess the association between CSF analytes and risk SNPs in four genes (SNPs): GRN (rs5848), TMEM106B (rs1990622), ABCC9 (rs704180), and KCNMB2 (rs9637454). 28189700

2017

dbSNP: rs9637454
rs9637454
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation BEFREE Alzheimer's Disease Neuroimaging Initiative cohort (ADNI; n=237) data, combining both multiplexed proteomics CSF and genotype data, were used to assess the association between CSF analytes and risk SNPs in four genes (SNPs): GRN (rs5848), TMEM106B (rs1990622), ABCC9 (rs704180), and KCNMB2 (rs9637454). 28189700

2017