NIPAL1, NIPA like domain containing 1, 152519

N. diseases: 17; N. variants: 17
Disease: Autosomal recessive retinitis pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1436425494
rs1436425494
Entrez Id: 1259;152519;101927157
Gene Symbol: CNGA1;NIPAL1;LOC101927157
CNGA1;NIPAL1;LOC101927157
CUI: C0339526
Disease:
Autosomal recessive retinitis pigmentosa 		0.010 GeneticVariation BEFREE Of which, p.Y82X is firstly reported in patient with autosomal recessive retinitis pigmentosa. 27391953 2016