Gene: PEX6 ×
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: 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 5 2001 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: rs267608227
rs267608227
PEX6
2 1.000 0.080 6 42966796 frameshift variant C/- delins 2.0E-05 3.5E-05 0.700 1.000 3 2009 2011
dbSNP: rs267608249
rs267608249
PEX6
1 6 42964931 splice acceptor variant T/C;G snv 0.700 1.000 3 1996 2011
dbSNP: rs61753230
rs61753230
PEX6
4 0.882 0.240 6 42965262 missense variant G/A snv 0.700 1.000 2 2009 2017
dbSNP: rs1491384052
rs1491384052
PEX6
3 0.925 0.080 6 42978640 frameshift variant -/A delins 0.700 1.000 1 1996 1996
dbSNP: rs772869377
rs772869377
PEX6
1 6 42966457 intron variant GAAAGTGCGTGG/- delins 3.6E-05 7.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs1554127491
rs1554127491
PEX6
1 6 42969675 stop gained G/A snv 0.700 0
dbSNP: rs267608241
rs267608241
PEX6
4 0.882 0.080 6 42965712 stop gained G/A snv 2.0E-05; 4.0E-06 0.700 0
dbSNP: rs61753224
rs61753224
PEX6
2 1.000 6 42967537 missense variant G/A snv 0.700 0
dbSNP: rs755716911
rs755716911
PEX6
1 6 42965787 splice acceptor variant AC/- delins 0.700 0
dbSNP: rs763459576
rs763459576
PEX6
1 6 42969884 splice donor variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs781475201
rs781475201
PEX6
1 6 42966802 stop gained G/T snv 2.8E-05 0.700 0
dbSNP: rs61752140
rs61752140
PEX6
3 0.925 0.080 6 42978981 missense variant A/G snv 0.010 1.000 1 2000 2000