Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61752123
rs61752123
PEX2
3 0.925 0.080 8 76983824 stop gained G/A;C snv 1.4E-04; 4.0E-06 0.700 1.000 6 1998 2017
dbSNP: rs267608240
rs267608240
PEX6
3 0.925 0.080 6 42966044 missense variant C/T snv 1.6E-05 7.0E-06 0.700 1.000 5 2001 2016
dbSNP: rs267608216
rs267608216
PEX6
4 0.882 0.080 6 42969714 frameshift variant CCAGGCCT/- delins 8.0E-05 2.1E-05 0.700 1.000 4 2009 2016
dbSNP: rs398123408
rs398123408
PEX1
3 0.925 0.240 7 92504842 protein altering variant -/TCCACACTG delins 1.2E-05 2.1E-05 0.700 1.000 4 1997 2011
dbSNP: rs61752100
rs61752100
PEX12
3 0.925 0.080 17 35577447 frameshift variant CTTT/- delins 4.4E-05 2.1E-05 0.700 1.000 4 1998 2011
dbSNP: rs61752107
rs61752107
PEX12
3 0.925 0.080 17 35576128 frameshift variant -/GGCA delins 1.6E-05 2.8E-05 0.700 1.000 4 1998 2018
dbSNP: rs144259891
rs144259891
PEX12
3 0.925 0.080 17 35577895 splice donor variant C/A;T snv 2.4E-05; 4.0E-06 0.700 1.000 3 1998 2011
dbSNP: rs187526749
rs187526749
PEX12
2 1.000 0.080 17 35576183 splice acceptor variant T/G snv 1.0E-04 5.0E-05 0.700 1.000 3 2004 2011
dbSNP: rs267608227
rs267608227
PEX6
2 1.000 0.080 6 42966796 frameshift variant C/- delins 2.0E-05 3.5E-05 0.700 1.000 3 2009 2011
dbSNP: rs267608249
rs267608249
PEX6
1 6 42964931 splice acceptor variant T/C;G snv 0.700 1.000 3 1996 2011
dbSNP: rs61750435
rs61750435
PEX10
4 0.882 0.080 1 2406791 frameshift variant -/T delins 2.1E-05 7.7E-05 0.700 1.000 3 2000 2011
dbSNP: rs61752093
rs61752093
PEX10
4 0.882 0.080 1 2406581 frameshift variant AG/- del 6.3E-05 0.700 1.000 3 2000 2011
dbSNP: rs61752106
rs61752106
PEX12
3 0.925 0.080 17 35577093 stop gained G/A;T snv 2.8E-05; 8.0E-06 0.700 1.000 3 2004 2011
dbSNP: rs61752124
rs61752124
PEX2
3 0.925 0.080 8 76983806 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 3 1999 2011
dbSNP: rs61752129
rs61752129
PEX26
14 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 1.000 3 2003 2010
dbSNP: rs149806989
rs149806989
PEX1
3 0.925 0.240 7 92517968 stop gained G/A snv 8.0E-06 0.700 1.000 2 2009 2010
dbSNP: rs398123301
rs398123301
PEX12
3 0.925 0.080 17 35575973 frameshift variant AG/- delins 0.700 1.000 2 2011 2015
dbSNP: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 1.000 2 1997 2016
dbSNP: rs61750428
rs61750428
PEX1 ; GATAD1
4 0.882 0.360 7 92494331 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 2 2009 2015
dbSNP: rs61752122
rs61752122
PEX2
2 1.000 0.080 8 76983896 frameshift variant TCTCA/- delins 1.6E-05 1.4E-05 0.700 1.000 2 2004 2011
dbSNP: rs61753230
rs61753230
PEX6
4 0.882 0.240 6 42965262 missense variant G/A snv 0.700 1.000 2 2009 2017
dbSNP: rs62641228
rs62641228
PEX26
4 0.882 0.080 22 18079935 missense variant C/G;T snv 7.2E-05 0.700 1.000 2 2006 2010
dbSNP: rs1491384052
rs1491384052
PEX6
3 0.925 0.080 6 42978640 frameshift variant -/A delins 0.700 1.000 1 1996 1996
dbSNP: rs1556586479
rs1556586479
PEX26
1 22 18078561 stop gained G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs1562857198
rs1562857198
PEX1
1 7 92506246 splice donor variant A/G snv 0.700 1.000 1 2009 2009