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: rs1562654527
rs1562654527
PEX3
1 1.000 0.240 6 143471041 missense variant G/A snv 0.700 0
dbSNP: rs267608193
rs267608193
PEX3
2 0.925 0.240 6 143485144 splice region variant T/G snv 0.700 0
dbSNP: rs61753229
rs61753229
PEX6
3 0.882 0.240 6 42965717 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs769836601
rs769836601
PEX1 ; GATAD1
2 0.925 0.240 7 92489364 frameshift variant GACT/- delins 2.0E-05 1.4E-05 0.700 1.000 3 2005 2011
dbSNP: rs1554366766
rs1554366766
PEX1 ; GATAD1
1 1.000 0.240 7 92489724 frameshift variant C/- del 0.700 0
dbSNP: rs1160117945
rs1160117945
PEX1 ; GATAD1
1 1.000 0.240 7 92489769 frameshift variant CT/- delins 7.0E-06 0.700 0
dbSNP: rs1554366802
rs1554366802
PEX1 ; GATAD1
1 1.000 0.240 7 92489771 frameshift variant T/- del 0.700 0
dbSNP: rs1057517467
rs1057517467
PEX1 ; GATAD1
2 0.925 0.240 7 92489776 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: rs759183382
rs759183382
PEX1 ; GATAD1
2 0.925 0.240 7 92489894 frameshift variant GA/-;GAGA delins 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1554367284
rs1554367284
PEX1 ; GATAD1
1 1.000 0.240 7 92491271 splice donor variant C/A snv 0.700 0
dbSNP: rs794729652
rs794729652
PEX1 ; GATAD1
3 0.882 0.360 7 92491330 frameshift variant -/G delins 4.0E-06 0.700 0
dbSNP: rs1554367358
rs1554367358
PEX1 ; GATAD1
1 1.000 0.240 7 92491356 frameshift variant TGGAAGGATCTCGGACATCTCTA/- del 0.700 0
dbSNP: rs886043558
rs886043558
PEX1 ; GATAD1
2 0.925 0.240 7 92491405 frameshift variant -/AT delins 0.700 0
dbSNP: rs1057517509
rs1057517509
PEX1 ; GATAD1
2 0.925 0.240 7 92491472 frameshift variant TT/- del 0.700 0
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: rs1554368097
rs1554368097
PEX1 ; GATAD1
1 1.000 0.240 7 92492951 splice donor variant G/T snv 0.700 0
dbSNP: rs1562846113
rs1562846113
PEX1 ; GATAD1
1 1.000 0.240 7 92492955 stop gained G/A snv 0.700 0
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: rs61750427
rs61750427
PEX1 ; GATAD1
3 0.882 0.360 7 92494357 missense variant A/G;T snv 7.2E-05; 4.0E-06 0.700 0
dbSNP: rs1057517531
rs1057517531
PEX1 ; GATAD1
2 0.925 0.240 7 92494398 splice acceptor variant T/C snv 0.700 0
dbSNP: rs267608180
rs267608180
PEX1 ; GATAD1
1 1.000 0.240 7 92494485 splice donor variant A/G snv 8.0E-06 0.700 1.000 1 2001 2001
dbSNP: rs267608179
rs267608179
PEX1 ; GATAD1
1 1.000 0.240 7 92494486 splice donor variant C/T snv 2.0E-05 5.6E-05 0.700 1.000 7 1997 2011
dbSNP: rs762324548
rs762324548
PEX1 ; GATAD1
2 0.925 0.360 7 92494491 frameshift variant T/- del 4.0E-06 0.700 0
dbSNP: rs61750426
rs61750426
PEX1 ; GATAD1
3 0.925 0.240 7 92494497 frameshift variant T/-;TTT delins 3.6E-05 5.6E-05 0.700 1.000 7 2002 2011