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: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
dbSNP: rs13324142
rs13324142
SLC26A6
2 0.925 0.120 3 48632014 missense variant C/G;T snv 4.0E-06; 9.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs180177168
rs180177168
AGXT
2 0.925 0.160 2 240868987 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2010 2010