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: rs2294214
rs2294214
6 0.882 0.040 6 22056694 splice region variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs55775505
rs55775505
3 0.882 0.040 6 22057337 intron variant C/A;G;T snv 0.700 1.000 1 2019 2019