Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs770873375
rs770873375
Entrez Id: 2887
Gene Symbol: GRB10
GRB10
CUI: C0001080
Disease:
Achondroplasia
0.010 GeneticVariation BEFREE A 2-year-old boy with clinical features consistent with achondroplasia and Silver-Russell syndrome-like symptoms was found to carry a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene at c.1138G > A (p.Gly380Arg) and a de novo 574 kb duplication at chromosome 7p12.1 that involved the entire growth-factor receptor bound protein 10 (GRB10) gene. 27370225 2016
dbSNP: rs17548938
rs17548938
Entrez Id: 2887
Gene Symbol: GRB10
GRB10
CUI: C0200641
Disease:
Blood basophil count (lab test)
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs17548938
rs17548938
Entrez Id: 2887
Gene Symbol: GRB10
GRB10
CUI: C0200638
Disease:
Eosinophil count procedure
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2715135
rs2715135
Entrez Id: 2887
Gene Symbol: GRB10
GRB10
CUI: C0205682
Disease:
Waist-Hip Ratio
T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs10486757
rs10486757
Entrez Id: 2887
Gene Symbol: GRB10
GRB10
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11555134
rs11555134
Entrez Id: 2887
Gene Symbol: GRB10
GRB10
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs145761614
rs145761614
Entrez Id: 2887
Gene Symbol: GRB10
GRB10
CUI: C0200638
Disease:
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2529411
rs2529411
Entrez Id: 2887
Gene Symbol: GRB10
GRB10
CUI: C0205682
Disease:
Waist-Hip Ratio
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs6976572
rs6976572
Entrez Id: 2887
Gene Symbol: GRB10
GRB10
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs9656664
rs9656664
Entrez Id: 2887
Gene Symbol: GRB10
GRB10
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs73116822
rs73116822
Entrez Id: 2887
Gene Symbol: GRB10
GRB10
CUI: C0017654
Disease:
Glomerular Filtration Rate
C 0.700 GeneticVariation GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462 2019
dbSNP: rs2237467
rs2237467
Entrez Id: 2887
Gene Symbol: GRB10
GRB10
CUI: C0005612
Disease:
Birth Weight
A 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs17152083
rs17152083
Entrez Id: 2887
Gene Symbol: GRB10
GRB10
CUI: C0017654
Disease:
Glomerular Filtration Rate
C 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs73116829
rs73116829
Entrez Id: 2887
Gene Symbol: GRB10
GRB10
CUI: C0017654
Disease:
Glomerular Filtration Rate
A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019