RS534542684 KIAA0586
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What This Variant Does
"CLNSIG=5
Associated Conditions
Joubert syndrome 23
Joubert syndrome
Short-rib thoracic dysplasia 14 with polydactyly
Congenital cerebellar hypoplasia
Intellectual disability
Rod-cone dystrophy
Retinal dystrophy
Joubert syndrome and related disorders
KIAA0586-related disorder
Inborn genetic diseases
KIAA0586- Related disorders
Joubert syndrome 23
Joubert syndrome
Short-rib thoracic dysplasia 14 with polydactyly
Congenital cerebellar hypoplasia
GWAS Studies (1)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Body mass index | A | OR: 0.29 | 8E-6 | PubMed |
Other Variants in KIAA0586