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: rs61750418
rs61750418
PEX1
2 0.925 0.240 7 92501923 stop gained G/A snv 1.6E-05 4.9E-05 0.700 1.000 5 1999 2011
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 3 2002 2015
dbSNP: rs1554375599
rs1554375599
PEX1
1 1.000 0.240 7 92517946 stop gained G/T snv 0.700 1.000 2 2011 2015
dbSNP: rs149806989
rs149806989
PEX1
3 0.925 0.240 7 92517968 stop gained G/A snv 8.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs1554373801
rs1554373801
PEX1
1 1.000 0.240 7 92511649 stop gained G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs61750409
rs61750409
PEX1
1 1.000 0.240 7 92506251 stop gained G/A snv 4.0E-06 0.700 1.000 1 2001 2001
dbSNP: rs61750417
rs61750417
PEX1
2 1.000 0.240 7 92501938 stop gained G/A;C snv 2.0E-05 0.700 1.000 1 2002 2002
dbSNP: rs762679408
rs762679408
PEX1 ; RBM48
1 1.000 0.240 7 92528431 stop gained C/T snv 1.5E-05 0.700 1.000 1 2011 2011
dbSNP: rs1057517464
rs1057517464
PEX1
2 0.925 0.240 7 92504882 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1057517467
rs1057517467
PEX1 ; GATAD1
2 0.925 0.240 7 92489776 stop gained G/A snv 0.700 0
dbSNP: rs1057517468
rs1057517468
PEX1
2 0.925 0.240 7 92503130 stop gained G/A snv 0.700 0
dbSNP: rs1057517470
rs1057517470
PEX1
2 0.925 0.240 7 92499805 stop gained G/A snv 0.700 0
dbSNP: rs1057517480
rs1057517480
PEX1 ; GATAD1
2 0.925 0.240 7 92489803 stop gained C/A snv 0.700 0
dbSNP: rs1057517481
rs1057517481
PEX1 ; GATAD1
2 0.925 0.240 7 92494538 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1057517485
rs1057517485
PEX1
2 0.925 0.240 7 92499736 stop gained G/A snv 0.700 0
dbSNP: rs1057517487
rs1057517487
PEX1
2 0.925 0.240 7 92519004 stop gained C/T snv 0.700 0
dbSNP: rs1057517489
rs1057517489
PEX1
2 0.925 0.240 7 92507032 stop gained C/A snv 0.700 0
dbSNP: rs1057517505
rs1057517505
PEX1
2 0.925 0.240 7 92517619 stop gained -/TATA delins 0.700 0
dbSNP: rs1562846113
rs1562846113
PEX1 ; GATAD1
1 1.000 0.240 7 92492955 stop gained G/A snv 0.700 0
dbSNP: rs398123409
rs398123409
PEX1
1 1.000 0.240 7 92502076 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs61750422
rs61750422
PEX1
2 0.925 0.240 7 92499808 stop gained G/A;C;T snv 1.2E-05; 1.2E-05 0.700 0
dbSNP: rs754983126
rs754983126
PEX1
2 0.925 0.240 7 92511003 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.800 1.000 20 1997 2016
dbSNP: rs121434455
rs121434455
PEX1
3 0.882 0.360 7 92504812 missense variant A/G snv 7.0E-06 0.800 1.000 4 1997 2001
dbSNP: rs61750407
rs61750407
PEX1
1 1.000 0.240 7 92507020 missense variant C/T snv 7.0E-06 0.700 1.000 1 2009 2009