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: rs145541911
rs145541911
2 0.925 2 27480049 missense variant G/A snv 9.2E-05 2.9E-04 0.700 0
dbSNP: rs587777078
rs587777078
1 1.000 2 27445436 frameshift variant TCTC/- delins 8.1E-06 1.4E-05 0.700 0
dbSNP: rs587777080
rs587777080
2 0.925 2 27447567 missense variant A/G snv 0.700 0
dbSNP: rs587777081
rs587777081
1 1.000 2 27459449 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs587777082
rs587777082
1 1.000 2 27457638 splice donor variant C/T snv 0.700 0
dbSNP: rs587777084
rs587777084
1 1.000 2 27476657 inframe deletion TCAATA/- delins 0.700 0
dbSNP: rs587777086
rs587777086
1 1.000 2 27461794 frameshift variant G/- delins 2.8E-05 0.700 0