| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
0.800 | GeneticVariation | UNIPROT | Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. | 30401459 | 2018 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Lanosterol reverses protein aggregation in cataracts. | 26200341 | 2015 | |||||||
|
|
|
G | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
G | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
T | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
G | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.020 | GeneticVariation | BEFREE | In the longitudinal study of patients with essential hypertension (median follow-up, 4 years; range, 1-15 years), eGFR decline was greater among the LSS rs2254524 AA genotype group (-4.39±1.18mL/min/1.73m<sup>2</sup> per year) than in the AC or CC genotype groups (-1.07±0.55 and -2.00±0.45mL/min/1.73m<sup>2</sup> per year respectively; P = 0.03). | 30660405 | 2019 | |||||||
|
|
|
0.020 | GeneticVariation | BEFREE | Here, we investigated the hypothesis that lanosterol synthase rs2254524 alleles in vivo impact the blood pressure (BP) and EO responses evoked by a low dietary Na intake (<100 mEq/d, 2 weeks) among patients with mild essential hypertension. | 26667413 | 2016 | |||||||
|
|
|
0.010 | GeneticVariation | BEFREE | These findings support the potential value of LSS rs2254524 genotype-based risk stratification to identify patients at high risk for AKI before cardiovascular surgery, as well as predict accelerated eGFR in the setting of hypertension. | 30660405 | 2019 | |||||||
|
|
|
0.010 | GeneticVariation | BEFREE | Here we identify two distinct homozygous LSS missense mutations (W581R and G588S) in two families with extensive congenital cataracts. | 26200341 | 2015 | |||||||
|
|
|
0.010 | GeneticVariation | BEFREE | Here we identify two distinct homozygous LSS missense mutations (W581R and G588S) in two families with extensive congenital cataracts. | 26200341 | 2015 |