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: rs61752119
rs61752119
PEX2
1 1.000 0.080 8 76984016 missense variant C/T snv 0.800 1.000 1 1999 1999
dbSNP: rs61752124
rs61752124
PEX2
3 0.925 0.080 8 76983806 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 4 1998 2011
dbSNP: rs61752123
rs61752123
PEX2
3 0.925 0.080 8 76983824 stop gained G/A;C snv 1.4E-04; 4.0E-06 0.700 1.000 3 1992 2004
dbSNP: rs267608188
rs267608188
PEX2
2 0.925 0.080 8 76983341 frameshift variant AAGTA/- delins 0.700 1.000 1 2006 2006
dbSNP: rs764771123
rs764771123
PEX2
3 0.925 0.080 8 76983834 frameshift variant TGCCACC/- delins 3.2E-05 7.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs1554584474
rs1554584474
PEX2
2 0.925 0.080 8 76983676 frameshift variant CT/- delins 0.700 0
dbSNP: rs1554584487
rs1554584487
PEX2
2 0.925 0.080 8 76983707 frameshift variant G/- delins 0.700 0
dbSNP: rs1554584505
rs1554584505
PEX2
2 0.925 0.080 8 76983824 frameshift variant GT/- del 0.700 0
dbSNP: rs200065382
rs200065382
PEX2
2 0.925 0.080 8 76983875 stop gained G/A;T snv 1.5E-04 3.0E-04 0.700 0
dbSNP: rs61752127
rs61752127
PEX2
1 1.000 0.080 8 76983510 stop gained C/T snv 0.700 0
dbSNP: rs724160029
rs724160029
PEX2
1 1.000 0.080 8 76983313 frameshift variant -/T delins 4.0E-06 0.700 0