Gene: INPP5E ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1431917892
rs1431917892
INPP5E
G 0.700 GeneticVariation CLINVAR Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 23386033

2013
dbSNP: rs121918130
rs121918130
INPP5E
A 0.700 GeneticVariation CLINVAR Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216

2009
dbSNP: rs1564430716
rs1564430716
INPP5E
C 0.700 CausalMutation CLINVAR INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215

2009
dbSNP: rs771866500
rs771866500
INPP5E
0.010 GeneticVariation BEFREE Here, we report the detailed clinical phenotypes of two sisters with a novel homozygous variant in INPP5E (NM_019892.4: c.1565G>C, NP_063945.2: p.Gly552Ala), expanding the phenotype associated with Joubert syndrome type 1. 29052317

2017