Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519340
rs1057519340
Entrez Id: 27151
Gene Symbol: CPAMD8
CPAMD8
CUI: C4310622
Disease:
ANTERIOR SEGMENT DYSGENESIS 8 		0.800 GeneticVariation UNIPROT
dbSNP: rs1057519340
rs1057519340
Entrez Id: 27151
Gene Symbol: CPAMD8
CPAMD8
CUI: C4310622
Disease:
ANTERIOR SEGMENT DYSGENESIS 8 		G 0.800 CausalMutation CLINVAR
dbSNP: rs4808540
rs4808540
Entrez Id: 27151
Gene Symbol: CPAMD8
CPAMD8
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2227359
rs2227359
Entrez Id: 27151
Gene Symbol: CPAMD8
CPAMD8
CUI: C0428474
Disease:
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs2227359
rs2227359
Entrez Id: 27151
Gene Symbol: CPAMD8
CPAMD8
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs2227359
rs2227359
Entrez Id: 27151
Gene Symbol: CPAMD8
CPAMD8
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs2227368
rs2227368
Entrez Id: 27151
Gene Symbol: CPAMD8
CPAMD8
CUI: C0202236
Disease:
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs369858688
rs369858688
Entrez Id: 27151
Gene Symbol: CPAMD8
CPAMD8
CUI: C4310622
Disease:
ANTERIOR SEGMENT DYSGENESIS 8 		T 0.700 CausalMutation CLINVAR
dbSNP: rs756064750
rs756064750
Entrez Id: 27151
Gene Symbol: CPAMD8
CPAMD8
CUI: C4310622
Disease:
ANTERIOR SEGMENT DYSGENESIS 8 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs773857
rs773857
Entrez Id: 27151
Gene Symbol: CPAMD8
CPAMD8
CUI: C0424295
Disease:
Hyperactive behavior 		0.010 GeneticVariation BEFREE We conclude that rs773857 risk allele homozygotes are associated with risk for increased platelet count and hyperactivity. 22228373 2012