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: rs1057520100
rs1057520100
1 1.000 1 62625399 stop gained G/A;T snv 4.3E-06; 4.3E-06 0.700 0
dbSNP: rs1553156203
rs1553156203
1 1.000 1 62496479 frameshift variant T/- delins 0.700 0
dbSNP: rs1557855477
rs1557855477
1 1.000 1 62647726 frameshift variant A/- delins 0.700 0
dbSNP: rs1557864817
rs1557864817
1 1.000 1 62654109 frameshift variant AATGA/T delins 0.700 0
dbSNP: rs587777484
rs587777484
1 1.000 1 62529349 stop gained G/A snv 0.700 0
dbSNP: rs587777485
rs587777485
1 1.000 1 62457653 stop gained C/A snv 7.0E-06 0.700 0
dbSNP: rs886037665
rs886037665
1 1.000 1 62555911 frameshift variant T/- del 0.700 0
dbSNP: rs886037666
rs886037666
1 1.000 1 62634825 stop gained G/C snv 0.700 0