NPHP1, nephrocystin 1, 4867

N. diseases: 126; N. variants: 11
Disease: Familial aplasia of the vermis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs755276263
rs755276263
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		0.010 GeneticVariation BEFREE Our studies confirm that a T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of JS type B patients negative for NPHP1, NPHP6, or AHI1 mutations. 17960139 2007