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: rs61871700
rs61871700
3 10 100068504 intron variant C/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs61751507
rs61751507
3 1.000 0.080 10 100069757 missense variant C/T snv 4.2E-02 3.4E-02 0.700 1.000 1 2018 2018