Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4792250
rs4792250
Entrez Id: 59344;84667
Gene Symbol: ALOXE3;HES7
ALOXE3;HES7
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs387906978
rs387906978
Entrez Id: 84667
Gene Symbol: HES7
HES7
CUI: C3150942
Disease:
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation UNIPROT Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. 20087400 2010
dbSNP: rs387906979
rs387906979
Entrez Id: 84667
Gene Symbol: HES7
HES7
CUI: C3150942
Disease:
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation UNIPROT Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. 20087400 2010
dbSNP: rs387906978
rs387906978
Entrez Id: 84667
Gene Symbol: HES7
HES7
CUI: C3150942
Disease:
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation UNIPROT Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. 18775957 2008
dbSNP: rs387906979
rs387906979
Entrez Id: 84667
Gene Symbol: HES7
HES7
CUI: C3150942
Disease:
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation UNIPROT Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. 18775957 2008
dbSNP: rs113994160
rs113994160
Entrez Id: 84667
Gene Symbol: HES7
HES7
CUI: C4083048
Disease:
SPONDYLOCOSTAL DYSOSTOSIS 5 		A 0.700 CausalMutation CLINVAR
dbSNP: rs113994160
rs113994160
Entrez Id: 84667
Gene Symbol: HES7
HES7
CUI: C0265343
Disease:
Jarcho-Levin syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1332109041
rs1332109041
Entrez Id: 84667
Gene Symbol: HES7
HES7
CUI: C3150942
Disease:
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs387906978
rs387906978
Entrez Id: 84667
Gene Symbol: HES7
HES7
CUI: C4083048
Disease:
SPONDYLOCOSTAL DYSOSTOSIS 5 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387906979
rs387906979
Entrez Id: 84667
Gene Symbol: HES7
HES7
CUI: C4083048
Disease:
SPONDYLOCOSTAL DYSOSTOSIS 5 		C 0.700 CausalMutation CLINVAR
dbSNP: rs398122970
rs398122970
Entrez Id: 84667
Gene Symbol: HES7
HES7
CUI: C4083048
Disease:
SPONDYLOCOSTAL DYSOSTOSIS 5 		CGGGGCGGTTT 0.700 CausalMutation CLINVAR