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: rs765498367
rs765498367
6 0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs1569405174
rs1569405174
1 X 110317618 frameshift variant G/- delins 0.700 0
dbSNP: rs1057519338
rs1057519338
8 0.882 X 110264571 stop gained G/A snv 0.700 0