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: rs121908165
rs121908165
4 0.925 0.120 1 154273538 stop gained C/G;T snv 1.6E-05 0.730 1.000 3 2007 2008
dbSNP: rs770288337
rs770288337
1 1 154273881 frameshift variant G/-;GG delins 0.700 1.000 5 2008 2014
dbSNP: rs141970914
rs141970914
1 1 154274959 missense variant G/A snv 3.3E-04 1.5E-04 0.700 1.000 4 2007 2010
dbSNP: rs764082747
rs764082747
1 1 154273373 frameshift variant G/- del 1.9E-04; 4.0E-06 2.6E-04 0.700 1.000 1 2009 2009
dbSNP: rs1398108109
rs1398108109
1 1 154273840 stop gained C/G snv 4.0E-06 0.700 0
dbSNP: rs179363870
rs179363870
1 1 154273878 missense variant T/C snv 0.700 0
dbSNP: rs179363871
rs179363871
1 1 154273846 missense variant T/G snv 0.700 0
dbSNP: rs74315322
rs74315322
3 1.000 0.040 1 154275165 stop gained C/T snv 3.6E-05 0.700 0