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: rs770913157
rs770913157
1 1.000 0.040 16 30965819 stop gained C/G;T snv 1.7E-05 0.700 1.000 1 2016 2016
dbSNP: rs869312829
rs869312829
1 1.000 0.040 16 30963431 splice acceptor variant A/G snv 4.1E-06 0.700 1.000 1 2016 2016
dbSNP: rs869312830
rs869312830
1 1.000 0.040 16 30965014 frameshift variant C/- del 0.700 1.000 1 2016 2016
dbSNP: rs869312831
rs869312831
1 1.000 0.040 16 30966090 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs869312832
rs869312832
1 1.000 0.040 16 30966051 frameshift variant -/C delins 0.700 1.000 1 2016 2016