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: rs61750415
rs61750415
PEX1
4 0.882 0.360 7 92503169 frameshift variant -/A delins 5.0E-04 5.1E-04 0.700 1.000 10 1999 2017
dbSNP: rs1554375511
rs1554375511
PEX1
1 1.000 0.240 7 92517754 frameshift variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs1057517472
rs1057517472
PEX1 ; GATAD1
2 0.925 0.240 7 92494553 frameshift variant -/A delins 0.700 0
dbSNP: rs886043558
rs886043558
PEX1 ; GATAD1
2 0.925 0.240 7 92491405 frameshift variant -/AT delins 0.700 0
dbSNP: rs1057517486
rs1057517486
PEX1
2 0.925 0.240 7 92504832 frameshift variant -/ATGGCTG delins 0.700 0
dbSNP: rs1057517463
rs1057517463
PEX1
2 0.925 0.240 7 92511008 frameshift variant -/C delins 0.700 0
dbSNP: rs1554372561
rs1554372561
PEX1
1 1.000 0.240 7 92506308 frameshift variant -/CA delins 0.700 0
dbSNP: rs1057517506
rs1057517506
PEX1
2 0.925 0.240 7 92518181 frameshift variant -/G delins 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: rs1057517484
rs1057517484
PEX1 ; GATAD1
2 0.925 0.240 7 92494614 frameshift variant -/T delins 0.700 0
dbSNP: rs767877383
rs767877383
PEX1 ; GATAD1
1 1.000 0.240 7 92494560 frameshift variant -/T delins 4.0E-06; 4.0E-05 0.700 0
dbSNP: rs1554370868
rs1554370868
PEX1
1 1.000 0.240 7 92501600 frameshift variant -/T;TT delins 0.700 0
dbSNP: rs1057517505
rs1057517505
PEX1
2 0.925 0.240 7 92517619 stop gained -/TATA delins 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: rs1554373787
rs1554373787
PEX1
1 1.000 0.240 7 92511624 frameshift variant A/- delins 0.700 1.000 1 2011 2011
dbSNP: rs1057517522
rs1057517522
PEX1
2 0.925 0.240 7 92517781 frameshift variant A/- delins 0.700 0
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: rs1478905473
rs1478905473
PEX1
1 1.000 0.240 7 92504730 splice donor variant A/C;G snv 0.700 0
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 2001
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: rs1554373578
rs1554373578
PEX1
1 1.000 0.240 7 92510942 splice donor variant A/G snv 0.700 0
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: rs1554372074
rs1554372074
PEX1
1 1.000 0.240 7 92504739 inframe deletion AAGCCGCTGGCTCTGCACCGCATCAGGACTGTGCTCATGTTCCGGGACAGCAGGCAGTCCAGCAATGAGGTCAAGGTCATCCAGCAGGACAACAGATGGCTGCATCCACACTGCCTCTGAGAAAGCCACCTCTAGGGTTTTTTGTATGTTTTCAAGCCT/- del 0.700 0
dbSNP: rs786204638
rs786204638
PEX1
1 1.000 0.240 7 92517603 frameshift variant AG/- delins 0.700 1.000 2 2005 2011
dbSNP: rs61750414
rs61750414
PEX1
1 1.000 0.240 7 92501914 frameshift variant AG/- delins 7.0E-06 0.700 1.000 1 2005 2005