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: rs10774671
rs10774671
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.010 1.000 1 2018 2018
dbSNP: rs1131454
rs1131454
3 0.882 0.040 12 112911065 missense variant G/A;C snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs2240190
rs2240190
1 1.000 0.040 12 112908322 intron variant C/A snv 4.9E-02 0.010 1.000 1 2018 2018