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: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2012 2012
dbSNP: rs61042368
rs61042368
2 0.925 0.040 X 154527122 downstream gene variant G/A snv 3.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs915942
rs915942
2 0.925 0.040 X 154398397 splice region variant G/A snv 0.14 0.18 0.010 1.000 1 2014 2014