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: rs515726180
rs515726180
1 8 102238827 splice region variant C/T snv 8.0E-06 2.1E-05 0.700 1.000 1 2017 2017
dbSNP: rs515726199
rs515726199
2 1.000 0.200 8 102208239 frameshift variant A/- delins 0.700 1.000 1 2017 2017