RS150726175 NMNAT1
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What This Variant Does
"CLNSIG=255
Associated Conditions
Leber congenital amaurosis 9
Leber congenital amaurosis
7 conditions
Retinal dystrophy
Inborn genetic diseases
NMNAT1-related disorder
Retinal disorder
autosomal recessive NMNAT1-related disorders.
Spondyloepiphyseal dysplasia
sensorineural hearing loss
impaired intellectual development
and leber congenital amaurosis
Cone-rod dystrophy
Autosomal recessive NMNAT1-related disorders
Leber congenital amaurosis 9
GWAS Studies (1)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| NMNAT1 protein levels | A | OR: 0.99 | 2E-34 | PubMed |
Other Variants in NMNAT1