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: rs121912991
rs121912991
DSP
1 1.000 0.080 6 7566428 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs397516955
rs397516955
DSP
9 0.790 0.120 6 7562753 stop gained G/A snv 0.700 0
dbSNP: rs727504443
rs727504443
DSP
5 0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06 0.700 0
dbSNP: rs794728137
rs794728137
DSP
6 0.807 0.120 6 7565507 frameshift variant -/G delins 0.700 0