Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200595749
rs200595749
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.720 GeneticVariation BEFREE In tissue samples, a single breast cancer tissue sample showed heterozygosity at locus c.5834G>A within the ZFYVE26 gene (Zinc finger FYVE domain-containing gene 26). 21691751 2011
dbSNP: rs200595749
rs200595749
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.720 GeneticVariation BEFREE A mutation in FYVE-CENT (R1945Q) associated with br</span>east cancer abolished the interaction between FYVE-CENT and Beclin 1, and reduced the localization of these proteins at the intercellular bridge during cytokinesis. 21455500 2011
dbSNP: rs200595749
rs200595749
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0678222
Disease:
Breast Carcinoma 		0.020 GeneticVariation BEFREE In tissue samples, a single breast cancer tissue sample showed heterozygosity at locus c.5834G>A within the ZFYVE26 gene (Zinc finger FYVE domain-containing gene 26). 21691751 2011
dbSNP: rs200595749
rs200595749
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0678222
Disease:
Breast Carcinoma 		0.020 GeneticVariation BEFREE A mutation in FYVE-CENT (R1945Q) associated with br</span>east cancer abolished the interaction between FYVE-CENT and Beclin 1, and reduced the localization of these proteins at the intercellular bridge during cytokinesis. 21455500 2011
dbSNP: rs104894476
rs104894476
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		G 0.800 CausalMutation CLINVAR
dbSNP: rs28940313
rs28940313
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		G 0.800 GeneticVariation CLINVAR
dbSNP: rs28940313
rs28940313
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		G 0.800 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
dbSNP: rs1186788102
rs1186788102
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1214483973
rs1214483973
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		A 0.700 GeneticVariation CLINVAR Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 23733235 2013
dbSNP: rs1224762841
rs1224762841
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1239043055
rs1239043055
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		T 0.700 GeneticVariation CLINVAR Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. 16269441 2005
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: rs1239043055
rs1239043055
Entrez Id: 10243;23503;145226
Gene Symbol: GPHN;ZFYVE26;RDH12
GPHN;ZFYVE26;RDH12
CUI: C2675186
Disease:
LEBER CONGENITAL AMAUROSIS 13 		T 0.700 GeneticVariation CLINVAR Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. 24474277 2014
dbSNP: rs137907310
rs137907310
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs137907310
rs137907310
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1470672632
rs1470672632
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555393005
rs1555393005
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555393181
rs1555393181
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555393338
rs1555393338
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555393393
rs1555393393
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C1849128
Disease:
Spastic paraplegia 15, autosomal recessive 		T 0.700 GeneticVariation CLINVAR