PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267608247
rs267608247 		1.000 6 42965078 missense variant C/A;G;T snv 4.2E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 1996 2016
dbSNP: rs61753219
rs61753219 		0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 1996 2016
dbSNP: rs34324426
rs34324426 		0.882 0.080 6 42967450 missense variant C/T snv 2.7E-03 2.9E-03
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2 		0.800 1.000 5 2009 2016
dbSNP: rs61753224
rs61753224 		1.000 6 42967537 missense variant G/A snv
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2 		0.800 1.000 5 2002 2016
dbSNP: rs267608216
rs267608216 		0.882 0.080 6 42969714 frameshift variant CCAGGCCT/- delins 8.0E-05 2.1E-05
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2 		0.700 1.000 3 2009 2016
dbSNP: rs61753219
rs61753219 		0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2 		0.800 1.000 3 2009 2016
dbSNP: rs769896492
rs769896492 		1.000 6 42966813 missense variant G/A snv 4.8E-05 7.0E-06
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2 		0.800 1.000 3 2009 2016
dbSNP: rs886037779
rs886037779 		1.000 6 42978497 missense variant G/C snv 4.0E-06
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2 		0.800 1.000 3 2009 2016
dbSNP: rs886037780
rs886037780 		1.000 6 42978876 missense variant A/C snv
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2 		0.800 1.000 3 2009 2016
dbSNP: rs886037781
rs886037781 		1.000 6 42978855 missense variant C/A snv
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2 		0.800 1.000 3 2009 2016
dbSNP: rs886037782
rs886037782 		1.000 6 42964882 missense variant C/A snv
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2 		0.800 1.000 3 2009 2016
dbSNP: rs2274517
rs2274517 		6 42964977 intron variant C/T snv 0.48 0.57
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9471987
rs9471987 		6 42976402 intron variant A/G snv 0.57
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		0.700 0
dbSNP: rs1010184002
rs1010184002 		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 		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 		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 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C4476788
Disease: Decreased CSF 5-hydroxyindolacetic acid
Decreased CSF 5-hydroxyindolacetic acid 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C4023333
Disease: Abnormality of corneal thickness
Abnormality of corneal thickness 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		0.700 0
dbSNP: rs1010184002
rs1010184002 		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