Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225465
rs863225465
Entrez Id: 23141
Gene Symbol: ANKLE2
ANKLE2
CUI: C4225249
Disease:
MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. 25259927 2014
dbSNP: rs863225465
rs863225465
Entrez Id: 23141
Gene Symbol: ANKLE2
ANKLE2
CUI: C4225249
Disease:
MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE 		C 0.800 CausalMutation CLINVAR
dbSNP: rs117646359
rs117646359
Entrez Id: 23141
Gene Symbol: ANKLE2
ANKLE2
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7138235
rs7138235
Entrez Id: 23141
Gene Symbol: ANKLE2
ANKLE2
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11147040
rs11147040
Entrez Id: 23141
Gene Symbol: ANKLE2
ANKLE2
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs1185537869
rs1185537869
Entrez Id: 23141
Gene Symbol: ANKLE2
ANKLE2
CUI: C4225249
Disease:
MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs201785518
rs201785518
Entrez Id: 23141
Gene Symbol: ANKLE2
ANKLE2
CUI: C4225249
Disease:
MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs201785518
rs201785518
Entrez Id: 23141
Gene Symbol: ANKLE2
ANKLE2
CUI: C4551563
Disease:
Microcephaly (physical finding) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs863225465
rs863225465
Entrez Id: 23141
Gene Symbol: ANKLE2
ANKLE2
CUI: C4551563
Disease:
Microcephaly (physical finding) 		C 0.700 GeneticVariation CLINVAR