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: rs34324426
rs34324426
PEX6
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
PEX6
1.000 6 42967537 missense variant G/A snv
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2 		0.800 1.000 3 2002 2016
dbSNP: rs61753229
rs61753229
PEX6
0.882 0.240 6 42965717 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.800 1.000 3 1996 2015
dbSNP: rs886037779
rs886037779
PEX6
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 1 2009 2016
dbSNP: rs886037780
rs886037780
PEX6
1.000 6 42978876 missense variant A/C snv
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2 		0.800 1.000 1 2009 2016
dbSNP: rs886037781
rs886037781
PEX6
1.000 6 42978855 missense variant C/A snv
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2 		0.800 1.000 1 2009 2016
dbSNP: rs886037782
rs886037782
PEX6
1.000 6 42964882 missense variant C/A snv
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2 		0.800 1.000 1 2009 2016
dbSNP: rs61753219
rs61753219
PEX6
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 0 2009 2016
dbSNP: rs769896492
rs769896492
PEX6
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 0 2009 2016
dbSNP: rs267608247
rs267608247
PEX6
1.000 6 42965078 missense variant C/A;G;T snv 4.2E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 8 1996 2016
dbSNP: rs267608247
rs267608247
PEX6
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
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 8 1996 2016
dbSNP: rs61753219
rs61753219
PEX6
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
PEX6
0.882 0.080 6 42967450 missense variant C/T snv 2.7E-03 2.9E-03
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 1.000 6 2009 2016
dbSNP: rs267608240
rs267608240
PEX6
0.925 0.080 6 42966044 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.700 1.000 5 2001 2016
dbSNP: rs267608216
rs267608216
PEX6
0.882 0.080 6 42969714 frameshift variant CCAGGCCT/- delins 8.0E-05 2.1E-05
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.700 1.000 4 2009 2016
dbSNP: rs267608216
rs267608216
PEX6
0.882 0.080 6 42969714 frameshift variant CCAGGCCT/- delins 8.0E-05 2.1E-05
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 1.000 4 2009 2016
dbSNP: rs267608229
rs267608229
PEX6
0.925 0.080 6 42966658 splice acceptor variant C/T snv 2.1E-05
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 1.000 4 1996 2015
dbSNP: rs267608229
rs267608229
PEX6
0.925 0.080 6 42966658 splice acceptor variant C/T snv 2.1E-05
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		0.700 1.000 4 1996 2015
dbSNP: rs267608240
rs267608240
PEX6
0.925 0.080 6 42966044 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 1.000 4 2001 2016
dbSNP: rs267608240
rs267608240
PEX6
0.925 0.080 6 42966044 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		0.700 1.000 4 2001 2016
dbSNP: rs267608216
rs267608216
PEX6
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: rs267608227
rs267608227
PEX6
1.000 0.080 6 42966796 frameshift variant C/- delins 2.0E-05 3.5E-05
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.700 1.000 3 2009 2011
dbSNP: rs267608249
rs267608249
PEX6
6 42964931 splice acceptor variant T/C;G snv
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.700 1.000 3 1996 2011
dbSNP: rs34324426
rs34324426
PEX6
0.882 0.080 6 42967450 missense variant C/T snv 2.7E-03 2.9E-03
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		0.700 1.000 3 2009 2015