Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557043622
rs1557043622
SLC35A2
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854

2019
dbSNP: rs757075712
rs757075712
TFAM
T 0.700 GeneticVariation CLINVAR

dbSNP: rs211037
rs211037
GABRG2
0.010 GeneticVariation BEFREE Multivariate analysis indicated that hypoalbuminemia (<3 g/dL), long-acting (t 1/2 > 12-h), high-dosage (>1.5 defined daily dose equivalents) and long-duration (>2-months) BZD use, carrier of variant genotypes (AG + GG) of GABRA 1 (rs2290732) and having the wild genotype (TT) of GABRG 2 (rs211037) were significant predictors of the development of BZD-associated HE in cirrhotic patients. 24482035

2014
dbSNP: rs2290732
rs2290732
GABRA1
0.010 GeneticVariation BEFREE Multivariate analysis indicated that hypoalbuminemia (<3 g/dL), long-acting (t 1/2 > 12-h), high-dosage (>1.5 defined daily dose equivalents) and long-duration (>2-months) BZD use, carrier of variant genotypes (AG + GG) of GABRA 1 (rs2290732) and having the wild genotype (TT) of GABRG 2 (rs211037) were significant predictors of the development of BZD-associated HE in cirrhotic patients. 24482035

2014
dbSNP: rs200482683
rs200482683
NPHS2 ; AXDND1
0.010 GeneticVariation BEFREE The second, a 31-year-old woman-compound heterozygous for p.V290M and p.R138Q-was first detected with hypoalbuminemia (<30 g/l) and edema at the age of 24.3 and 27.5 years, respectively. 23242530

2013
dbSNP: rs74315342
rs74315342
NPHS2
0.010 GeneticVariation BEFREE The second, a 31-year-old woman-compound heterozygous for p.V290M and p.R138Q-was first detected with hypoalbuminemia (<30 g/l) and edema at the age of 24.3 and 27.5 years, respectively. 23242530

2013
dbSNP: rs767419411
rs767419411
PPOX
0.010 GeneticVariation BEFREE The second, a 31-year-old woman-compound heterozygous for p.V290M and p.R138Q-was first detected with hypoalbuminemia (<30 g/l) and edema at the age of 24.3 and 27.5 years, respectively. 23242530

2013
dbSNP: rs121908131
rs121908131
APTX
0.010 GeneticVariation BEFREE In conclusion, patients with early onset ataxia with ocular motor apraxia and hypoalbuminaemia homozygous for the c.689_690insT mutation show a more severe phenotype than those with a p.Pro206Leu or p.Val263Gly mutation. 21486904

2011
dbSNP: rs121908132
rs121908132
APTX
0.010 GeneticVariation BEFREE In conclusion, patients with early onset ataxia with ocular motor apraxia and hypoalbuminaemia homozygous for the c.689_690insT mutation show a more severe phenotype than those with a p.Pro206Leu or p.Val263Gly mutation. 21486904

2011