Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs987233144
rs987233144
Entrez Id: 23370
Gene Symbol: ARHGEF18
ARHGEF18
CUI: C4479481
Disease:
RETINITIS PIGMENTOSA 78
0.800 GeneticVariation UNIPROT
dbSNP: rs987233144
rs987233144
Entrez Id: 23370
Gene Symbol: ARHGEF18
ARHGEF18
CUI: C4479481
Disease:
RETINITIS PIGMENTOSA 78
G 0.800 CausalMutation CLINVAR
dbSNP: rs62111672
rs62111672
Entrez Id: 23370
Gene Symbol: ARHGEF18
ARHGEF18
CUI: C0200638
Disease:
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11667028
rs11667028
Entrez Id: 23370
Gene Symbol: ARHGEF18
ARHGEF18
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: rs12979990
rs12979990
Entrez Id: 23370
Gene Symbol: ARHGEF18
ARHGEF18
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: rs17255882
rs17255882
Entrez Id: 23370
Gene Symbol: ARHGEF18
ARHGEF18
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: rs17255882
rs17255882
Entrez Id: 23370
Gene Symbol: ARHGEF18
ARHGEF18
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: rs8102136
rs8102136
Entrez Id: 23370
Gene Symbol: ARHGEF18
ARHGEF18
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: rs8110029
rs8110029
Entrez Id: 23370
Gene Symbol: ARHGEF18
ARHGEF18
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: rs62111672
rs62111672
Entrez Id: 23370
Gene Symbol: ARHGEF18
ARHGEF18
CUI: C0200635
Disease:
Lymphocyte Count measurement
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1064793000
rs1064793000
Entrez Id: 23370
Gene Symbol: ARHGEF18
ARHGEF18
CUI: C4479481
Disease:
RETINITIS PIGMENTOSA 78
T 0.700 CausalMutation CLINVAR
dbSNP: rs1064793001
rs1064793001
Entrez Id: 23370
Gene Symbol: ARHGEF18
ARHGEF18
CUI: C4479481
Disease:
RETINITIS PIGMENTOSA 78
G 0.700 CausalMutation CLINVAR
dbSNP: rs1064793002
rs1064793002
Entrez Id: 23370
Gene Symbol: ARHGEF18
ARHGEF18
CUI: C4479481
Disease:
RETINITIS PIGMENTOSA 78
A 0.700 CausalMutation CLINVAR
dbSNP: rs767689418
rs767689418
Entrez Id: 23370
Gene Symbol: ARHGEF18
ARHGEF18
CUI: C4479481
Disease:
RETINITIS PIGMENTOSA 78
T 0.700 CausalMutation CLINVAR
dbSNP: rs3745357
rs3745357
Entrez Id: 23370
Gene Symbol: ARHGEF18
ARHGEF18
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE Although the overall allele and genotype frequencies of rs3745357 in niPAH patients were close to those of the control group, significant differences have been identified when we further divided the niPAH patients into subgroups with or without coronary heart disease (CHD). 30405854 2018