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: rs121918355
rs121918355
7 0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06 0.700 0
dbSNP: rs1566628109
rs1566628109
1 1.000 14 74535993 frameshift variant -/G delins 0.700 0
dbSNP: rs1566636728
rs1566636728
1 1.000 14 74555512 frameshift variant A/- del 0.700 0
dbSNP: rs387907174
rs387907174
1 1.000 14 74503252 stop gained G/A snv 0.700 0
dbSNP: rs387907175
rs387907175
1 1.000 14 74505039 missense variant C/T snv 0.700 0
dbSNP: rs777661862
rs777661862
1 1.000 14 74500903 frameshift variant -/G delins 1.4E-05 0.700 0