Gene: PEX1 ×
Source: INFERRED ×
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: 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: 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: 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: rs61750418
rs61750418
PEX1
2 0.925 0.240 7 92501923 stop gained G/A snv 1.6E-05 4.9E-05 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
46 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.810 1.000 9 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 0 1997 2005
dbSNP: rs61750427
rs61750427
PEX1 ; GATAD1
3 0.882 0.360 7 92494357 missense variant A/G;T snv 7.2E-05; 4.0E-06 0.800 1.000 0 1997 2005
dbSNP: rs1057517469
rs1057517469
PEX1
2 0.925 0.240 7 92510943 splice donor variant C/T snv 0.700 0
dbSNP: rs1057517490
rs1057517490
PEX1
2 0.925 0.240 7 92509328 splice donor variant C/A;T snv 0.700 0
dbSNP: rs756876301
rs756876301
PEX1
3 0.882 0.360 7 92517275 splice donor variant C/A;T snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs61750415
rs61750415
PEX1
4 0.882 0.360 7 92503169 frameshift variant -/A delins 5.0E-04 5.1E-04 0.700 1.000 7 1999 2017
dbSNP: rs267608176
rs267608176
PEX1
2 0.925 0.240 7 92506306 frameshift variant T/- delins 1.6E-05 0.700 1.000 2 2009 2011
dbSNP: rs61750412
rs61750412
PEX1
2 0.925 0.240 7 92504768 frameshift variant TG/- delins 4.0E-06 0.700 1.000 2 2011 2011
dbSNP: rs1057517463
rs1057517463
PEX1
2 0.925 0.240 7 92511008 frameshift variant -/C delins 0.700 0