Gene: PEX2 ×
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: 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 6 1998 2017
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 3 1999 2011
dbSNP: rs61752122
rs61752122
PEX2
2 1.000 0.080 8 76983896 frameshift variant TCTCA/- delins 1.6E-05 1.4E-05 0.700 1.000 2 2004 2011
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