RP2, RP2 activator of ARL3 GTPase, 6102

N. diseases: 45; N. variants: 15
Disease: X-linked retinitis pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35565082
rs35565082
Entrez Id: 6102
Gene Symbol: RP2
RP2
CUI: C0339528
Disease:
X-linked retinitis pigmentosa 		0.010 GeneticVariation BEFREE A novel RP2 missense mutation Q158P identified in an X-linked retinitis pigmentosa family impaired RP2 protein stability. 31071385 2019
dbSNP: rs104894927
rs104894927
Entrez Id: 6102
Gene Symbol: RP2
RP2
CUI: C0339528
Disease:
X-linked retinitis pigmentosa 		0.010 GeneticVariation BEFREE Phenotype associated with an R120X nonsense mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa. 11262649 2001