Gene: PEX1 ×
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: rs1057517505
rs1057517505
PEX1
2 0.925 0.240 7 92517619 stop gained -/TATA delins 0.700 0
dbSNP: rs1057517506
rs1057517506
PEX1
2 0.925 0.240 7 92518181 frameshift variant -/G delins 0.700 0
dbSNP: rs1057517509
rs1057517509
PEX1 ; GATAD1
2 0.925 0.240 7 92491472 frameshift variant TT/- del 0.700 0
dbSNP: rs1057517520
rs1057517520
PEX1
2 0.925 0.240 7 92517360 frameshift variant T/- delins 0.700 0
dbSNP: rs1057517522
rs1057517522
PEX1
2 0.925 0.240 7 92517781 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517529
rs1057517529
PEX1
2 0.925 0.240 7 92504876 frameshift variant TT/G delins 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: rs1160117945
rs1160117945
PEX1 ; GATAD1
1 1.000 0.240 7 92489769 frameshift variant CT/- delins 7.0E-06 0.700 0
dbSNP: rs1478905473
rs1478905473
PEX1
1 1.000 0.240 7 92504730 splice donor variant A/C;G snv 0.700 0
dbSNP: rs1554366766
rs1554366766
PEX1 ; GATAD1
1 1.000 0.240 7 92489724 frameshift variant C/- del 0.700 0
dbSNP: rs1554366802
rs1554366802
PEX1 ; GATAD1
1 1.000 0.240 7 92489771 frameshift variant T/- del 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: rs1554367358
rs1554367358
PEX1 ; GATAD1
1 1.000 0.240 7 92491356 frameshift variant TGGAAGGATCTCGGACATCTCTA/- del 0.700 0
dbSNP: rs1554368097
rs1554368097
PEX1 ; GATAD1
1 1.000 0.240 7 92492951 splice donor variant G/T snv 0.700 0
dbSNP: rs1554369234
rs1554369234
PEX1
1 1.000 0.240 7 92496779 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1554370868
rs1554370868
PEX1
1 1.000 0.240 7 92501600 frameshift variant -/T;TT delins 0.700 0
dbSNP: rs1554372074
rs1554372074
PEX1
1 1.000 0.240 7 92504739 inframe deletion AAGCCGCTGGCTCTGCACCGCATCAGGACTGTGCTCATGTTCCGGGACAGCAGGCAGTCCAGCAATGAGGTCAAGGTCATCCAGCAGGACAACAGATGGCTGCATCCACACTGCCTCTGAGAAAGCCACCTCTAGGGTTTTTTGTATGTTTTCAAGCCT/- del 0.700 0
dbSNP: rs1554372561
rs1554372561
PEX1
1 1.000 0.240 7 92506308 frameshift variant -/CA delins 0.700 0
dbSNP: rs1554372756
rs1554372756
PEX1
1 1.000 0.240 7 92507001 stop lost CTGTGAGTAAAAGAGCTCCATTCCTAAGTCCTGCAACAAGAGACATCAGCTGCC/- delins 0.700 0
dbSNP: rs1554373578
rs1554373578
PEX1
1 1.000 0.240 7 92510942 splice donor variant A/G 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: rs398123408
rs398123408
PEX1
3 0.925 0.240 7 92504842 protein altering variant -/TCCACACTG delins 1.2E-05 2.1E-05 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: rs61750406
rs61750406
PEX1
2 0.925 0.240 7 92517407 frameshift variant T/-;TT delins 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