Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752717
rs61752717
MEFV
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy 		0.060 GeneticVariation BEFREE All 12 common mutations in the MEFV gene were analyzed and the M694V variant was found to be associated with an adverse FMF clinical outcome in the Armenian-American population, manifested by earlier onset of disease, increased severity of disease, and renal amyloidosis. 23038988

2013
dbSNP: rs61752717
rs61752717
MEFV
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy 		0.060 GeneticVariation BEFREE Indeed, the SAA1 alpha homozygous genotype and the p.Met694Val homozygous genotype at the MEFV locus are two main risk factors for RA. 19888326

2009
dbSNP: rs61752717
rs61752717
MEFV
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy 		0.060 GeneticVariation BEFREE Logistic regression analysis showed that homozygosity for the M694V allele (odds ratio [OR] 4.27, 95% confidence interval [95% CI] 2.01-9.07), the presence of the SAAalpha/alpha genotype (OR 2.99, 95% CI 1.47-6.09), the occurrence of arthritis attacks (OR 2.43, 95% CI 1.17-5.06), and male sex (OR 1.73, 95% CI 0.90-3.33) were significantly and independently associated with renal amyloidosis. 12687559

2003
dbSNP: rs61752717
rs61752717
MEFV
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy 		0.060 GeneticVariation BEFREE Homozygotes for the M694V mutation and the complex V726A-E148Q allele are the most severely affected and often endure renal amyloidosis. 11938447

2002
dbSNP: rs61752717
rs61752717
MEFV
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy 		0.060 GeneticVariation BEFREE Differences in clinical expression have been attributed to MEFV-allelic heterogeneity, with the M694V/M694V genotype associated with a high prevalence of renal amyloidosis. 11017802

2000
dbSNP: rs61752717
rs61752717
MEFV
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy 		0.060 GeneticVariation BEFREE The M694V homozygous genotype was found to be associated with a higher prevalence of renal amyloidosis and arthritis, compared with other genotypes (P=.0002 and P=.006, respectively). 10364520

1999
dbSNP: rs28940579
rs28940579
MEFV
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy 		0.010 GeneticVariation BEFREE Homozygotes for the M694V mutation and the complex V726A-E148Q allele are the most severely affected and often endure renal amyloidosis. 11938447

2002
dbSNP: rs3743930
rs3743930
MEFV
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy 		0.010 GeneticVariation BEFREE Homozygotes for the M694V mutation and the complex V726A-E148Q allele are the most severely affected and often endure renal amyloidosis. 11938447

2002