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: rs77571059
rs77571059
2 0.925 0.120 7 128937861 intron variant GGGGCGGGGC/-;GGGGC;GGGGCGGGGCGGGGC;GGGGCGGGGCGGGGCGGGGC;GGGGCGGGGCGGGGCGGGGCGGGGC delins 0.010 1.000 1 2018 2018
dbSNP: rs9313422
rs9313422
4 0.851 0.160 5 157058359 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2020 2020