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: rs1203487591
rs1203487591
1 1.000 19 13109445 frameshift variant CA/- delins 8.0E-06 3.5E-05 0.700 0
dbSNP: rs1568361011
rs1568361011
1 1.000 19 13107750 splice donor variant C/A snv 0.700 0
dbSNP: rs746572548
rs746572548
1 1.000 19 13112965 frameshift variant ACGTCAAACCTCTCCGACACCCTCTGGTGCTG/- delins 1.4E-05 0.700 0