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: rs376787666
rs376787666
1 1.000 7 100199372 splice region variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs587777267
rs587777267
1 1.000 7 100188862 frameshift variant C/- delins 0.700 0
dbSNP: rs869320765
rs869320765
1 1.000 7 100200852 frameshift variant -/CT delins 0.700 0