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: rs1568019012
rs1568019012
13 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
dbSNP: rs386834158
rs386834158
10 0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06 0.700 0
dbSNP: rs773386777
rs773386777
6 1.000 0.160 12 88093977 splice acceptor variant T/C snv 0.700 0