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: rs397508104
rs397508104
2 0.925 0.120 11 2847859 frameshift variant C/-;CC delins 0.700 1.000 6 1999 2014
dbSNP: rs1464992494
rs1464992494
1 1.000 0.120 11 2847874 frameshift variant -/G delins 0.700 0
dbSNP: rs397508105
rs397508105
1 1.000 0.120 11 2847865 frameshift variant -/A delins 0.700 0
dbSNP: rs147445322
rs147445322
4 0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06 0.010 1.000 1 2005 2005
dbSNP: rs1800172
rs1800172
4 0.925 0.120 11 2847899 missense variant G/A;T snv 6.2E-03 0.010 1.000 1 2006 2006