Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		0.700 1.000 1 2015 2015
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0239137
Disease: Coxa valga
Coxa valga 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1853241
Disease: Flat face
Flat face 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0410266
Disease: Contracture of hamstring(s)
Contracture of hamstring(s) 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1849025
Disease: Oval face
Oval face 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C2674177
Disease: Areflexia of upper limbs
Areflexia of upper limbs 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1850573
Disease: Slender build
Slender build 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0