Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912765
rs121912765
BMP4
CUI: C1864689
Disease: MICROPHTHALMIA, SYNDROMIC 6 (disorder)
MICROPHTHALMIA, SYNDROMIC 6 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. 18252212

2008
dbSNP: rs121912765
rs121912765
BMP4
CUI: C1864689
Disease: MICROPHTHALMIA, SYNDROMIC 6 (disorder)
MICROPHTHALMIA, SYNDROMIC 6 (disorder) 		C 0.800 CausalMutation CLINVAR