Source: BEFREE ×
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: rs29001665
rs29001665
SETX
1 1.000 0.080 9 132331293 missense variant G/A snv 4.0E-06 1.4E-05 0.810 1.000 1 2004 2014
dbSNP: rs104894103
rs104894103
APTX
5 0.807 0.280 9 32974495 stop gained C/G;T snv 4.0E-06; 1.6E-04 0.010 1.000 1 2005 2005
dbSNP: rs61742937
rs61742937
SETX
1 1.000 0.080 9 132328623 missense variant T/C snv 1.5E-02 1.4E-02 0.010 1.000 1 2013 2013