Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs374042455
rs374042455
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
CUI: C4748320
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 		0.800 GeneticVariation UNIPROT Milder forms of muscular dystrophy associated with POMGNT2 mutations. 27066570 2015
dbSNP: rs374042455
rs374042455
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
CUI: C4748320
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387907300
rs387907300
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
CUI: C3553813
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 		0.800 GeneticVariation UNIPROT
dbSNP: rs387907300
rs387907300
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
CUI: C3553813
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 		T 0.800 CausalMutation CLINVAR
dbSNP: rs729654
rs729654
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs729654
rs729654
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs11719573
rs11719573
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
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: rs12497427
rs12497427
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
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: rs12634345
rs12634345
Entrez Id: 84892;107986079
Gene Symbol: POMGNT2;LOC107986079
POMGNT2;LOC107986079
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: rs1523126
rs1523126
Entrez Id: 84892;107986079
Gene Symbol: POMGNT2;LOC107986079
POMGNT2;LOC107986079
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: rs17470330
rs17470330
Entrez Id: 84892;107986079
Gene Symbol: POMGNT2;LOC107986079
POMGNT2;LOC107986079
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: rs1815070
rs1815070
Entrez Id: 84892;107986079
Gene Symbol: POMGNT2;LOC107986079
POMGNT2;LOC107986079
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: rs2867
rs2867
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
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: rs488069
rs488069
Entrez Id: 84892;107986079
Gene Symbol: POMGNT2;LOC107986079
POMGNT2;LOC107986079
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs493412
rs493412
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs503100
rs503100
Entrez Id: 84892;107986079
Gene Symbol: POMGNT2;LOC107986079
POMGNT2;LOC107986079
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs7639740
rs7639740
Entrez Id: 84892;107986079
Gene Symbol: POMGNT2;LOC107986079
POMGNT2;LOC107986079
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: rs488069
rs488069
Entrez Id: 84892;107986079
Gene Symbol: POMGNT2;LOC107986079
POMGNT2;LOC107986079
CUI: C0024530
Disease:
Malaria 		0.700 GeneticVariation GWASDB Genome-wide and fine-resolution association analysis of malaria in West Africa. 19465909 2009
dbSNP: rs1553618354
rs1553618354
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
CUI: C3553813
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1559414655
rs1559414655
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
CUI: C4748320
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 		G 0.700 CausalMutation CLINVAR
dbSNP: rs374042455
rs374042455
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
CUI: C3553813
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387907299
rs387907299
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
CUI: C3553813
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387907300
rs387907300
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
CUI: C3278123
Disease:
Severe hydrocephalus 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs387907300
rs387907300
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
CUI: C0410916
Disease:
Neonatal Death 		T 0.700 GeneticVariation CLINVAR