Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135402738
rs1135402738
SMCHD1
0.800 GeneticVariation UNIPROT FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function. 29748383

2018
dbSNP: rs1135402738
rs1135402738
SMCHD1
0.800 GeneticVariation UNIPROT SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 28067909

2017
dbSNP: rs1135402738
rs1135402738
SMCHD1
0.800 GeneticVariation UNIPROT De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. 28067911

2017
dbSNP: rs1135402738
rs1135402738
SMCHD1
A 0.800 CausalMutation CLINVAR SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 28067909

2017