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: rs1564555185
rs1564555185
2 1.000 0.120 9 72789306 frameshift variant -/A delins 0.700 0
dbSNP: rs1564583413
rs1564583413
2 1.000 0.120 9 72830640 stop gained G/T snv 0.700 0
dbSNP: rs757327146
rs757327146
2 1.000 0.120 9 72789236 stop gained C/A;G;T snv 2.4E-05 0.700 0
dbSNP: rs775428246
rs775428246
3 0.925 0.120 9 72694715 splice donor variant G/A;T snv 1.7E-05; 4.2E-06 0.700 0
dbSNP: rs121908072
rs121908072
2 1.000 0.120 9 72816161 missense variant G/A;C snv 0.010 1.000 1 2009 2009