Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs554294508
rs554294508
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C4479452
Disease:
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.800 GeneticVariation UNIPROT EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. 28148688 2017
dbSNP: rs554294508
rs554294508
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C4479452
Disease:
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.800 GeneticVariation UNIPROT Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. 28132690 2017
dbSNP: rs770842408
rs770842408
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C4479452
Disease:
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.800 GeneticVariation UNIPROT EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. 28148688 2017
dbSNP: rs770842408
rs770842408
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C4479452
Disease:
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.800 GeneticVariation UNIPROT Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. 28132690 2017
dbSNP: rs554294508
rs554294508
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C4479452
Disease:
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		T 0.800 CausalMutation CLINVAR
dbSNP: rs747676107
rs747676107
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C4479452
Disease:
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.800 GeneticVariation UNIPROT
dbSNP: rs747676107
rs747676107
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C4479452
Disease:
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		T 0.800 CausalMutation CLINVAR
dbSNP: rs770842408
rs770842408
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C4479452
Disease:
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		G 0.800 CausalMutation CLINVAR
dbSNP: rs2283102
rs2283102
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4339595
rs4339595
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs4339595
rs4339595
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs7839487
rs7839487
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs7839487
rs7839487
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs10448080
rs10448080
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C0005890
Disease:
Body Height 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 25429064 2015
dbSNP: rs1332006145
rs1332006145
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C4479452
Disease:
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.700 GeneticVariation UNIPROT
dbSNP: rs749621890
rs749621890
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C1844704
Disease:
Platyspondyly 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs749621890
rs749621890
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C4479452
Disease:
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs749621890
rs749621890
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C0349588
Disease:
Short stature 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs749621890
rs749621890
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C0557874
Disease:
Global developmental delay 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs749621890
rs749621890
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C1866730
Disease:
Rhizomelia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs749621890
rs749621890
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C0410528
Disease:
Skeletal dysplasia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs749621890
rs749621890
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
CUI: C0022821
Disease:
Kyphosis deformity of spine 		T 0.700 GeneticVariation CLINVAR