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: 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
dbSNP: rs1057517485
rs1057517485
PEX1
2 0.925 0.240 7 92499736 stop gained G/A snv 0.700 0
dbSNP: rs1057517486
rs1057517486
PEX1
2 0.925 0.240 7 92504832 frameshift variant -/ATGGCTG delins 0.700 0
dbSNP: rs1057517487
rs1057517487
PEX1
2 0.925 0.240 7 92519004 stop gained C/T snv 0.700 0
dbSNP: rs1057517488
rs1057517488
PEX1
2 0.925 0.240 7 92517440 frameshift variant CT/- delins 0.700 0
dbSNP: rs1057517489
rs1057517489
PEX1
2 0.925 0.240 7 92507032 stop gained C/A 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: rs1057517497
rs1057517497
PEX1
2 0.925 0.240 7 92511004 frameshift variant T/- delins 0.700 0
dbSNP: rs1057517499
rs1057517499
PEX1
2 0.925 0.240 7 92503101 frameshift variant TAAAG/- delins 0.700 0
dbSNP: rs1057517500
rs1057517500
PEX1
2 0.925 0.240 7 92518257 splice acceptor variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs1057517501
rs1057517501
PEX1 ; RBM48
2 0.925 0.240 7 92528435 start lost T/A;G snv 5.0E-06 0.700 0
dbSNP: rs1057517503
rs1057517503
PEX1
2 0.925 0.240 7 92496773 frameshift variant G/- delins 0.700 0