Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 GeneticVariation CLINVAR Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. 26275793

2015
dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C0013336
Disease: Dwarfism
Dwarfism 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C1868549
Disease: Marked delay in bone age
Marked delay in bone age 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C1853241
Disease: Flat face
Flat face 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C4023338
Disease: Profound sensorineural hearing impairment
Profound sensorineural hearing impairment 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C0221358
Disease: Long narrow head
Long narrow head 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C1843108
Disease: Short palm
Short palm 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C0410266
Disease: Contracture of hamstring(s)
Contracture of hamstring(s) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C0029453
Disease: Osteopenia
Osteopenia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C0239137
Disease: Coxa valga
Coxa valga 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C0456909
Disease: Blindness
Blindness 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C4476788
Disease: Decreased CSF 5-hydroxyindolacetic acid
Decreased CSF 5-hydroxyindolacetic acid 		T 0.700 GeneticVariation CLINVAR