rs387906881
|
GOSR2;LRRC37A2
|
EPILEPSY, PROGRESSIVE MYOCLONIC, 6
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
|
21549339 |
2011 |
rs10853087
|
GOSR2;LRRC37A2
|
Blood urea nitrogen measurement
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
|
29403010 |
2018 |
rs17608766
|
GOSR2;LRRC37A2
|
Systolic Pressure
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
rs17608766
|
GOSR2;LRRC37A2
|
Cardiovascular Diseases
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
rs17608766
|
GOSR2;LRRC37A2
|
QRS complex feature
|
|
0.700 |
GeneticVariation |
GWASCAT |
52 Genetic Loci Influencing Myocardial Mass.
|
27659466 |
2016 |
rs197920
|
GOSR2;LRRC37A2
|
Body Height
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
rs3785888
|
GOSR2;LRRC37A2
|
Cleft Palate
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.
|
28054174 |
2017 |
rs3785888
|
GOSR2;LRRC37A2
|
Cleft upper lip
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.
|
28054174 |
2017 |
rs6504622
|
GOSR2;LRRC37A2
|
Oral cleft
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.
|
28054174 |
2017 |
rs16941382
|
GOSR2;LRRC37A2
|
Coronary Arteriosclerosis
|
|
0.010 |
GeneticVariation |
BEFREE |
The G-T haplotype established by rs3785889-rs16941382 may be a risk genetic marker for coronary artery disease patients in Chinese Han population.
|
29137253 |
2017 |
rs16941382
|
GOSR2;LRRC37A2
|
Coronary heart disease
|
|
0.010 |
GeneticVariation |
BEFREE |
The G-T haplotype established by rs3785889-rs16941382 may be a risk genetic marker for coronary artery disease patients in Chinese Han population.
|
29137253 |
2017 |
rs16941382
|
GOSR2;LRRC37A2
|
Coronary Artery Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
The G-T haplotype established by rs3785889-rs16941382 may be a risk genetic marker for coronary artery disease patients in Chinese Han population.
|
29137253 |
2017 |
rs197922
|
GOSR2;LRRC37A2
|
Myocardial Infarction
|
|
0.010 |
GeneticVariation |
BEFREE |
Additionally, the frequency of the T-G-G haplotype (rs197932-rs3785889-rs197922) for men was significantly lower in the MI patients than in the control subjects (p=0.040).
|
23675987 |
2013 |
rs197922
|
GOSR2;LRRC37A2
|
Hypertensive disease
|
|
0.010 |
GeneticVariation |
BEFREE |
GOSR2 Lys67Arg is associated with hypertension in whites.
|
19057520 |
2009 |
rs197922
|
GOSR2;LRRC37A2
|
Essential Hypertension
|
|
0.010 |
GeneticVariation |
BEFREE |
Additionally, the frequency of the T-A-G haplotype (rs197932-rs3785889-rs197922) for men was significantly higher in the EH patients than in the control subjects (P=0.049).
|
23313660 |
2013 |
rs3785889
|
GOSR2;LRRC37A2
|
Coronary Arteriosclerosis
|
|
0.010 |
GeneticVariation |
BEFREE |
Multiple logistic regression analysis also confirmed that the subjects with G-T haplotype established by rs3785889-rs16941382 (homozygote) were found having significantly higher chance suffering from coronary artery disease than the ones without this haplotype (OR=1.887, <i>P</i>=0.007).
|
29137253 |
2017 |
rs3785889
|
GOSR2;LRRC37A2
|
Coronary heart disease
|
|
0.010 |
GeneticVariation |
BEFREE |
Multiple logistic regression analysis also confirmed that the subjects with G-T haplotype established by rs3785889-rs16941382 (homozygote) were found having significantly higher chance suffering from coronary artery disease than the ones without this haplotype (OR=1.887, <i>P</i>=0.007).
|
29137253 |
2017 |
rs3785889
|
GOSR2;LRRC37A2
|
Myocardial Infarction
|
|
0.010 |
GeneticVariation |
BEFREE |
Additionally, the frequency of the T-G-G haplotype (rs197932-rs3785889-rs197922) for men was significantly lower in the MI patients than in the control subjects (p=0.040).
|
23675987 |
2013 |
rs3785889
|
GOSR2;LRRC37A2
|
Coronary Artery Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
Multiple logistic regression analysis also confirmed that the subjects with G-T haplotype established by rs3785889-rs16941382 (homozygote) were found having significantly higher chance suffering from coronary artery disease than the ones without this haplotype (OR=1.887, <i>P</i>=0.007).
|
29137253 |
2017 |
rs3785889
|
GOSR2;LRRC37A2
|
Essential Hypertension
|
|
0.010 |
GeneticVariation |
BEFREE |
Additionally, the frequency of the T-A-G haplotype (rs197932-rs3785889-rs197922) for men was significantly higher in the EH patients than in the control subjects (P=0.049).
|
23313660 |
2013 |
rs387906881
|
GOSR2;LRRC37A2
|
Progressive cerebellar ataxia
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus.
|
24458321 |
2014 |
rs387906881
|
GOSR2;LRRC37A2
|
Myoclonus
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus.
|
24458321 |
2014 |
rs141554661
|
GOSR2;LRRC37A2
|
Seizures
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs141554661
|
GOSR2;LRRC37A2
|
Myoclonic Epilepsies, Progressive
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
|
21549339 |
2011 |
rs141554661
|
GOSR2;LRRC37A2
|
EPILEPSY, PROGRESSIVE MYOCLONIC, 6
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|