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: rs745495865
rs745495865
1 1.000 0.120 11 22625809 start lost A/C;G snv 8.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs587778340
rs587778340
2 0.925 0.120 11 22625326 frameshift variant AG/- delins 1.3E-04 0.700 0
dbSNP: rs730880277
rs730880277
2 0.925 0.120 11 22625559 frameshift variant AGTTCGCTAATCCCGGAACTGGA/- delins 1.4E-05 0.700 0