Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1365818420
rs1365818420
SMOC1
A 0.800 CausalMutation CLINVAR Mutations in ALDH1A3 cause microphthalmia. 23646827

2013
dbSNP: rs1365818420
rs1365818420
SMOC1
0.800 GeneticVariation UNIPROT Mutations in ALDH1A3 cause microphthalmia. 23646827

2013
dbSNP: rs1365818420
rs1365818420
SMOC1
0.800 GeneticVariation UNIPROT SMOC1 is essential for ocular and limb development in humans and mice. 21194678

2011
dbSNP: rs1365818420
rs1365818420
SMOC1
0.800 GeneticVariation UNIPROT Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. 21194680

2011
dbSNP: rs1365818420
rs1365818420
SMOC1
0.800 GeneticVariation UNIPROT Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. 21750680

2011
dbSNP: rs370866589
rs370866589
SMOC1
0.710 GeneticVariation BEFREE A 9-month-old female patient is presented herein, who was diagnosed with ophthalmo-acromelic syndrome and had a homozygous nonsense mutation (p.Arg75Ter) in SMOC1, along with a review of the literature. 31067494

2019
dbSNP: rs370866589
rs370866589
SMOC1
T 0.710 GeneticVariation CLINVAR

dbSNP: rs1566709825
rs1566709825
SMOC1
A 0.700 GeneticVariation CLINVAR A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome. 28085523

2017
dbSNP: rs776638586
rs776638586
SMOC1
0.700 GeneticVariation UNIPROT Mutations in ALDH1A3 cause microphthalmia. 23646827

2013
dbSNP: rs751356341
rs751356341
SMOC1
T 0.700 CausalMutation CLINVAR Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. 21194680

2011
dbSNP: rs776638586
rs776638586
SMOC1
0.700 GeneticVariation UNIPROT Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. 21750680

2011
dbSNP: rs776638586
rs776638586
SMOC1
0.700 GeneticVariation UNIPROT SMOC1 is essential for ocular and limb development in humans and mice. 21194678

2011
dbSNP: rs776638586
rs776638586
SMOC1
0.700 GeneticVariation UNIPROT Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. 21194680

2011
dbSNP: rs1114167455
rs1114167455
SMOC1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1326644602
rs1326644602
SMOC1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1566709754
rs1566709754
SMOC1
T 0.700 CausalMutation CLINVAR

dbSNP: rs376672665
rs376672665
SMOC1
T 0.700 CausalMutation CLINVAR

dbSNP: rs863223317
rs863223317
SMOC1
A 0.700 CausalMutation CLINVAR