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: rs1801689
rs1801689
7 17 66214462 missense variant A/C;G snv 4.0E-06; 2.4E-02; 4.8E-05 0.700 1.000 3 2012 2013
dbSNP: rs8178926
rs8178926
2 17 66220473 intron variant C/T snv 1.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs8178944
rs8178944
2 17 66213260 intron variant C/T snv 1.4E-02 0.700 1.000 1 2012 2012