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: rs145204276
rs145204276
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.030 1.000 3 2016 2018
dbSNP: rs55829688
rs55829688
5 0.827 0.200 1 173868168 5 prime UTR variant T/C;G snv 0.010 1.000 1 2019 2019