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: rs137852839
rs137852839
1 1.000 0.120 9 114403982 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs776268964
rs776268964
2 1.000 0.120 9 114504776 stop gained G/A;C;T snv 1.3E-05 0.700 0
dbSNP: rs869320674
rs869320674
1 1.000 0.120 9 114403335 frameshift variant C/- delins 0.700 0