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: rs35705950
rs35705950
14 0.763 0.240 11 1219991 splice region variant G/A;T snv 0.020 1.000 2 2017 2019
dbSNP: rs5743890
rs5743890
4 0.925 0.040 11 1304599 intron variant T/C snv 9.7E-02 0.010 1.000 1 2017 2017