Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519639
rs1057519639
SMCHD1
G 0.700 CausalMutation CLINVAR SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 28067909

2017
dbSNP: rs1057519642
rs1057519642
SMCHD1
T 0.700 CausalMutation CLINVAR SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 28067909

2017
dbSNP: rs606231409
rs606231409
ANOS1
C 0.700 CausalMutation CLINVAR Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. 23533228

2013
dbSNP: rs1569167586
rs1569167586
POLR2F ; SOX10
C 0.700 CausalMutation CLINVAR