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: rs118203998
rs118203998
11 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs118203999
rs118203999
4 0.925 0.200 16 23623003 stop gained G/A snv 0.700 0
dbSNP: rs180177097
rs180177097
5 0.882 0.080 16 23635519 stop gained G/A snv 0.700 0
dbSNP: rs180177102
rs180177102
3 1.000 0.080 16 23634954 frameshift variant AA/-;A delins 1.8E-04 1.3E-04 0.700 0
dbSNP: rs180177111
rs180177111
7 0.925 0.080 16 23629831 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs180177132
rs180177132
11 0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 0.700 0
dbSNP: rs180177133
rs180177133
9 0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05 0.700 0
dbSNP: rs587781840
rs587781840
2 16 23623001 frameshift variant T/- delins 0.700 0