Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2802684
rs2802684
Entrez Id: 577
Gene Symbol: ADGRB3
ADGRB3
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs2802684
rs2802684
Entrez Id: 577
Gene Symbol: ADGRB3
ADGRB3
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs513357
rs513357
Entrez Id: 577
Gene Symbol: ADGRB3
ADGRB3
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
dbSNP: rs13202734
rs13202734
Entrez Id: 577
Gene Symbol: ADGRB3
ADGRB3
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: rs1523947
rs1523947
Entrez Id: 577
Gene Symbol: ADGRB3
ADGRB3
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: rs1523947
rs1523947
Entrez Id: 577
Gene Symbol: ADGRB3
ADGRB3
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: rs9351736
rs9351736
Entrez Id: 577
Gene Symbol: ADGRB3
ADGRB3
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: rs1562005199
rs1562005199
Entrez Id: 577
Gene Symbol: ADGRB3
ADGRB3
CUI: C0349588
Disease:
Short stature 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1562137453
rs1562137453
Entrez Id: 577
Gene Symbol: ADGRB3
ADGRB3
CUI: C0349588
Disease:
Short stature 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs13191240
rs13191240
Entrez Id: 577
Gene Symbol: ADGRB3
ADGRB3
CUI: C0566602
Disease:
Primary sclerosing cholangitis 		0.010 GeneticVariation BEFREE The SNP, rs35730843, mapping to the POLR2G gene promoter (P = 1.2 × 10<sup>-5</sup>, OR = 0.39) demonstrated the highest effect size, and was protective for PBC, whereas for PSC respective SNPs were: rs13191240 in the intron of ADGRB3 gene (P = 0.0095, OR = 0.2) and rs3822659 (P = 0.0051, OR = 0.236) along with rs9686714 (P = 0.00077, OR = 0.2), both located in the WWC1 gene. 28056976 2017