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: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.810 1.000 12 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 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 4 1997 2005
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: rs61750429
rs61750429
PEX1 ; GATAD1
1 1.000 0.120 7 92494330 missense variant C/T snv 4.0E-06 1.4E-05 0.700 1.000 4 1997 2005
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: 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: rs1057517518
rs1057517518
PEX1 ; GATAD1
2 0.925 0.240 7 92491503 splice acceptor variant C/T snv 4.0E-06 1.4E-05 0.700 1.000 1 2016 2016
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: rs766020928
rs766020928
PEX1 ; RBM48
2 0.925 0.240 7 92528434 start lost A/C;G snv 2.0E-05 0.700 1.000 1 2011 2011
dbSNP: rs1028247729
rs1028247729
PEX1
2 0.925 0.240 7 92522246 splice acceptor variant C/A;G snv 2.1E-05 0.700 0
dbSNP: rs1057517463
rs1057517463
PEX1
2 0.925 0.240 7 92511008 frameshift variant -/C delins 0.700 0
dbSNP: rs1057517464
rs1057517464
PEX1
2 0.925 0.240 7 92504882 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1057517465
rs1057517465
PEX1
2 0.925 0.240 7 92517439 frameshift variant T/- delins 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: rs1057517469
rs1057517469
PEX1
2 0.925 0.240 7 92510943 splice donor variant C/T snv 0.700 0
dbSNP: rs1057517470
rs1057517470
PEX1
2 0.925 0.240 7 92499805 stop gained G/A snv 0.700 0
dbSNP: rs1057517472
rs1057517472
PEX1 ; GATAD1
2 0.925 0.240 7 92494553 frameshift variant -/A delins 0.700 0
dbSNP: rs1057517478
rs1057517478
PEX1
2 0.925 0.240 7 92504895 frameshift variant C/- delins 0.700 0
dbSNP: rs1057517479
rs1057517479
PEX1
2 0.925 0.240 7 92518256 splice acceptor variant C/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: rs1057517484
rs1057517484
PEX1 ; GATAD1
2 0.925 0.240 7 92494614 frameshift variant -/T delins 0.700 0