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: rs61753229
rs61753229
PEX6
3 0.882 0.240 6 42965717 missense variant C/T snv 1.2E-05 1.4E-05 0.800 1.000 4 1996 2015
dbSNP: rs34324426
rs34324426
PEX6
3 0.882 0.080 6 42967450 missense variant C/T snv 2.7E-03 2.9E-03 0.700 1.000 6 2009 2016
dbSNP: rs267608216
rs267608216
PEX6
4 0.882 0.080 6 42969714 frameshift variant CCAGGCCT/- delins 8.0E-05 2.1E-05 0.700 1.000 4 2009 2016
dbSNP: rs267608229
rs267608229
PEX6
2 0.925 0.080 6 42966658 splice acceptor variant C/T snv 2.1E-05 0.700 1.000 4 1996 2015
dbSNP: rs267608240
rs267608240
PEX6
3 0.925 0.080 6 42966044 missense variant C/T snv 1.6E-05 7.0E-06 0.700 1.000 4 2001 2016
dbSNP: rs1554127531
rs1554127531
PEX6
1 1.000 0.080 6 42969797 missense variant C/A snv 0.700 1.000 3 2009 2016
dbSNP: rs267608244
rs267608244
PEX6
1 1.000 0.080 6 42965294 missense variant T/G snv 0.700 1.000 3 2009 2016
dbSNP: rs387906809
rs387906809
PEX6
2 0.925 0.080 6 42968377 missense variant A/G snv 0.700 1.000 3 2009 2016
dbSNP: rs61753219
rs61753219
PEX6
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 1.000 3 2004 2013
dbSNP: rs61753225
rs61753225
PEX6
1 1.000 0.080 6 42967451 missense variant G/A snv 2.0E-05 7.0E-06 0.700 1.000 3 2010 2016
dbSNP: rs61753230
rs61753230
PEX6
4 0.882 0.240 6 42965262 missense variant G/A snv 0.700 1.000 3 2009 2016
dbSNP: rs61753231
rs61753231
PEX6
1 1.000 0.080 6 42965261 missense variant C/T snv 2.0E-05 0.700 1.000 3 2009 2016
dbSNP: rs61752140
rs61752140
PEX6
3 0.925 0.080 6 42978981 missense variant A/G snv 0.700 1.000 2 2000 2010
dbSNP: rs61753212
rs61753212
PEX6
2 0.925 0.080 6 42978634 frameshift variant T/- del 1.0E-05 7.0E-06 0.700 1.000 2 2004 2010
dbSNP: rs61753228
rs61753228
PEX6
1 1.000 0.080 6 42965718 missense variant G/A snv 0.700 1.000 2 1996 1999
dbSNP: rs1491384052
rs1491384052
PEX6
3 0.925 0.080 6 42978640 frameshift variant -/A delins 0.700 1.000 1 1996 1996
dbSNP: rs61753209
rs61753209
PEX6
2 0.925 0.080 6 42978840 frameshift variant C/- delins 1.8E-05 2.1E-05 0.700 1.000 1 2010 2010
dbSNP: rs63749004
rs63749004
PEX6
2 0.925 0.080 6 42978336 frameshift variant CCAGTCCGTCAGCG/- delins 1.2E-05 0.700 1.000 1 2012 2012
dbSNP: rs863225083
rs863225083
PEX6
3 0.882 0.080 6 42967411 frameshift variant A/- del 4.0E-06 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1356280167
rs1356280167
PEX6
2 0.925 0.080 6 42979018 stop gained C/A;T snv 8.1E-06 0.700 0
dbSNP: rs1416001981
rs1416001981
PEX6
2 0.925 0.080 6 42974001 splice donor variant A/G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1443107232
rs1443107232
PEX6
2 0.925 0.080 6 42966043 splice donor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1554126798
rs1554126798
PEX6
2 0.925 0.080 6 42964904 frameshift variant G/- delins 0.700 0
dbSNP: rs1554126955
rs1554126955
PEX6
2 0.925 0.080 6 42965713 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1554127383
rs1554127383
PEX6
2 0.925 0.080 6 42968872 splice donor variant A/- del 0.700 0