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: rs59308963
rs59308963
1 1.000 0.080 2 201258757 intron variant ATTCTGTC/- delins 0.72 0.700 1.000 1 2018 2018
dbSNP: rs1045485
rs1045485
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.020 1.000 2 2010 2014