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: rs34002892
rs34002892
GNPTAB
T 0.700 CausalMutation CLINVAR Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. 25606425

2014
dbSNP: rs34002892
rs34002892
GNPTAB
T 0.700 CausalMutation CLINVAR Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. 20880125

2011
dbSNP: rs34002892
rs34002892
GNPTAB
T 0.700 CausalMutation CLINVAR Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene. 16465621

2006
dbSNP: rs1009298200
rs1009298200
ALG1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555452127
rs1555452127
ALG1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs369160589
rs369160589
ALG1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs6473
rs6473
CYP21A2 ; TNXB
0.010 GeneticVariation BEFREE A notable increased allelic frequency for the known p.Asn493Ser polymorphism was observed in the pool of the 28 girls with PA in whom no mutation was identified. 25481255

2015
dbSNP: rs1801282
rs1801282
PPARG
0.010 GeneticVariation BEFREE Polymorphism Pro12Ala of PPARG in prepubertal children with premature adrenarche and its association with growth in healthy children. 20606394

2010
dbSNP: rs1805192
rs1805192
PPARG
0.010 GeneticVariation BEFREE Polymorphism Pro12Ala of PPARG in prepubertal children with premature adrenarche and its association with growth in healthy children. 20606394

2010
dbSNP: rs12255372
rs12255372
TCF7L2
0.010 GeneticVariation BEFREE The differences in the minor allele frequencies (MAFs) of rs9939609, rs7903146, and rs12255372 were not statistically significant between the PA and control groups (difference in MAFs [95% confidence interval]: -0.06 [-0.18, 0.05], 0.04 [-0.05, 0.12], and 0.01 [-0.07, 0.10]; P = .3, .4, and .8, respectively). 19497595

2009
dbSNP: rs7903146
rs7903146
TCF7L2
0.010 GeneticVariation BEFREE However, the risk allele at TCF7L2 rs7903146 was more frequent in PA subjects than in controls when we restricted the analysis to the subjects with lower weight-for-height than the median of the PA subjects (weight-for-height <108%, corresponding body mass index SD score <0.79; difference in MAFs [95% confidence interval]: 0.12 [-0.001, 0.23]; P = .038). 19497595

2009
dbSNP: rs9939609
rs9939609
FTO
0.010 GeneticVariation BEFREE In conclusion, the minor variant at FTO rs9939609 seems to play no major role in the increased weight-for-height of PA subjects; but the risk allele at TCF7L2 rs7903146 may have a role in the pathogenesis of PA in lean subjects. 19497595

2009