rs1057519640, SMCHD1

N. diseases: 1
Disease: Arhinia, choanal atresia, and microphthalmia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Arhinia, choanal atresia, and microphthalmia
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
0.800 GeneticVariation UNIPROT
Arhinia, choanal atresia, and microphthalmia
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
0.800 CausalMutation CLINVAR SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 28067909 2017