Source: ALL
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: rs121912996
rs121912996
DSP
1 1.000 0.080 6 7583062 stop gained C/A;T snv 0.700 0
dbSNP: rs397516955
rs397516955
DSP
9 0.790 0.120 6 7562753 stop gained G/A snv 0.700 0
dbSNP: rs730880023
rs730880023
DSP
1 1.000 0.080 6 7577039 splice donor variant AGGTA/- delins 0.700 0
dbSNP: rs730880024
rs730880024
DSP
1 1.000 0.080 6 7584505 frameshift variant T/- delins 0.700 0
dbSNP: rs794728137
rs794728137
DSP
6 0.807 0.120 6 7565507 frameshift variant -/G delins 0.700 0