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: rs587778340
rs587778340
2 0.925 0.120 11 22625326 frameshift variant AG/- delins 1.3E-04 0.700 1.000 3 2000 2015
dbSNP: rs747622521
rs747622521
1 1.000 0.120 11 22625121 frameshift variant A/- del 1.2E-05 7.0E-06 0.700 1.000 2 2000 2005
dbSNP: rs104894221
rs104894221
1 1.000 0.120 11 22625795 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs104894222
rs104894222
1 1.000 0.120 11 22625484 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs730880277
rs730880277
2 0.925 0.120 11 22625559 frameshift variant AGTTCGCTAATCCCGGAACTGGA/- delins 1.4E-05 0.700 0
dbSNP: rs730880278
rs730880278
1 1.000 0.120 11 22625414 frameshift variant CTCTCTTGGAGTGTCTCCTCATCGGCGTCCCGGACGCCCGGGCCGGG/- delins 0.700 0