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: rs1131691564
rs1131691564
2 0.925 0.160 X 30308656 stop gained C/T snv 0.700 0
dbSNP: rs1324519932
rs1324519932
2 0.925 0.160 X 30308445 stop gained C/A;G snv 1.3E-05 9.5E-06 0.700 0
dbSNP: rs1555973010
rs1555973010
2 0.925 0.160 X 30308463 stop gained G/A snv 0.700 0
dbSNP: rs1555973115
rs1555973115
2 0.925 0.160 X 30308812 frameshift variant TT/-;T delins 0.700 0
dbSNP: rs1555973131
rs1555973131
2 0.925 0.160 X 30308848 stop gained C/T snv 0.700 0
dbSNP: rs767828388
rs767828388
2 0.925 0.160 X 30308836 stop gained G/A;C snv 6.1E-06 0.700 0