NIPAL1, NIPA like domain containing 1, 152519

N. diseases: 17; N. variants: 17
Disease: Cone-Rod Dystrophies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62625014
rs62625014
Entrez Id: 1259;152519;101927157
Gene Symbol: CNGA1;NIPAL1;LOC101927157
CNGA1;NIPAL1;LOC101927157
CUI: C4085590
Disease:
Cone-Rod Dystrophies 		A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019