Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752283089
rs752283089
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
dbSNP: rs752283089
rs752283089
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598 2015
dbSNP: rs869312914
rs869312914
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598 2015
dbSNP: rs869312914
rs869312914
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
dbSNP: rs386834261
rs386834261
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C0854723
Disease:
Retinal Dystrophies 		C 0.700 CausalMutation CLINVAR Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
dbSNP: rs1239043055
rs1239043055
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C0035334
Disease:
Retinitis Pigmentosa 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs386834261
rs386834261
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C0035334
Disease:
Retinitis Pigmentosa 		C 0.700 CausalMutation CLINVAR
dbSNP: rs527236099
rs527236099
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C0035334
Disease:
Retinitis Pigmentosa 		C 0.700 CausalMutation CLINVAR
dbSNP: rs200832994
rs200832994
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0037772
Disease:
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs370828455
rs370828455
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0037772
Disease:
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR [Koryak of Kamchatka. The genetic differentiation of the population]. 6944241 1981
dbSNP: rs558285072
rs558285072
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0037772
Disease:
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum. 27544497 2016
dbSNP: rs767164213
rs767164213
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0037772
Disease:
Spastic Paraplegia 		C 0.700 GeneticVariation CLINVAR SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. 19805727 2009
dbSNP: rs767164213
rs767164213
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0037772
Disease:
Spastic Paraplegia 		C 0.700 GeneticVariation CLINVAR Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. 18394578 2008
dbSNP: rs768366199
rs768366199
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0037772
Disease:
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs769329153
rs769329153
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0037772
Disease:
Spastic Paraplegia 		C 0.700 GeneticVariation CLINVAR SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. 19805727 2009
dbSNP: rs769329153
rs769329153
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0037772
Disease:
Spastic Paraplegia 		C 0.700 GeneticVariation CLINVAR Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. 18394578 2008
dbSNP: rs774809466
rs774809466
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0037772
Disease:
Spastic Paraplegia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs878855011
rs878855011
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0037772
Disease:
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs878855013
rs878855013
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0037772
Disease:
Spastic Paraplegia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs950356390
rs950356390
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0037772
Disease:
Spastic Paraplegia 		GGCCCTTC 0.700 CausalMutation CLINVAR
dbSNP: rs1049504575
rs1049504575
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		T 0.700 GeneticVariation CLINVAR SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. 19805727 2009
dbSNP: rs1057518016
rs1057518016
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		A 0.700 CausalMutation CLINVAR Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. 24833714 2014
dbSNP: rs118204049
rs118204049
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		A 0.700 CausalMutation CLINVAR
dbSNP: rs118204049
rs118204049
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		A 0.700 GeneticVariation CLINVAR Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. 18394578 2008
dbSNP: rs118204050
rs118204050
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		A 0.700 CausalMutation CLINVAR