Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912430
rs121912430
Insulin-Like Growth Factor I Deficiency
T 0.700 CausalMutation CLINVAR

dbSNP: rs5742617
rs5742617
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs5742626
rs5742626
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs5742626
rs5742626
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs5742626
rs5742626
High density lipoprotein measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs5742643
rs5742643
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
A 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653

2018

dbSNP: rs5742663
rs5742663
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs5742683
rs5742683
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs5742692
rs5742692
CUI: C0489786
Disease: Height
Height
G 0.700 GeneticVariation GWASDB A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. 20189936

2010

dbSNP: rs5742692
rs5742692
CUI: C0005890
Disease: Body Height
Body Height
G 0.700 GeneticVariation GWASCAT A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. 20189936

2010

dbSNP: rs587779350
rs587779350
Insulin-Like Growth Factor I Deficiency
A 0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050

2014

dbSNP: rs6214
rs6214
CUI: C0005890
Disease: Body Height
Body Height
0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340

2019

dbSNP: rs7300373
rs7300373
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs9308315
rs9308315
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs972936
rs972936
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
T 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560

2019

dbSNP: rs972936
rs972936
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure)
T 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560

2019

dbSNP: rs972936
rs972936
CUI: C0042834
Disease: Vital capacity
Vital capacity
T 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560

2019

dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Overall results suggest changes in neuromodulator levels are subtle in SOD1-G93A ALS mixed cell cultures. 30618638

2018

dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Therefore, the aim of this study was to investigate the effect of intravenous delivery of human IGF1 by self-complementary adeno-associated virus (scAAV) vectors in 90-day-old SOD1-G93A ALS mice. 29499331

2018

dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Intraspinal administration of human spinal cord-derived neural progenitor cells in the G93A-SOD1 mouse model of ALS delays symptom progression, prolongs survival and increases expression of endogenous neurotrophic factors. 25641599

2017

dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Finally, AAV9::IGF-2 delivery to muscles of SOD1(G93A) ALS mice extended life-span by 10%, while preserving motor neurons and inducing motor axon regeneration. 27180807

2016

dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Here, to investigate the role of proliferating cells in motor neuron disease, SOD1(G93A) transgenic mice were treated intracerebroventicularly (i.c.v.) with the anti-mitotic drug cytosine arabinoside (Ara-C).I.c.v. delivery of Ara-C accelerated disease progression in SOD1(G93A) mouse model of ALS. 22523565

2012

dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE We report that symptomatic male hSOD1(G93A) transgenic mice exhibit a deficiency in GH secretion similar to that seen in human ALS. 22621959

2012

dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Therefore, we investigate the influence of the soluble factors released by hADSCs on the GLT1 in primary astrocytes cultured from SOD1(G93A) mice, a widely studied mutant human SOD1 transgenic model of ALS. 20152807

2010

dbSNP: rs745805222
rs745805222
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Although viral delivery of IGF-I has shown therapeutic efficacy in the SOD1(G93A) mouse model of ALS, clinical trials of IGF-I in ALS patients have led to conflicting results. 19038252

2009