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: rs28940308
rs28940308
PEX26
2 0.925 0.240 22 18079908 missense variant G/A snv 0.800 1.000 1 2003 2003
dbSNP: rs74315506
rs74315506
PEX26
2 0.925 0.080 22 18078378 start lost T/C;G snv 4.5E-06 0.700 1.000 4 2003 2017
dbSNP: rs267608190
rs267608190
PEX26
1 1.000 0.080 22 18078607 splice donor variant G/T snv 0.700 0
dbSNP: rs61752129
rs61752129
PEX26
14 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs61752133
rs61752133
PEX26
2 0.925 0.080 22 18079896 frameshift variant -/T delins 0.700 0
dbSNP: rs62641228
rs62641228
PEX26
4 0.882 0.080 22 18079935 missense variant C/G;T snv 7.2E-05 0.700 0
dbSNP: rs62641229
rs62641229
PEX26
1 1.000 0.080 22 18079939 stop gained G/A;C snv 4.0E-06 0.700 0