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: rs1400419650
rs1400419650
38 0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1555386022
rs1555386022
38 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
dbSNP: rs755007671
rs755007671
1 1.000 0.080 7 37912216 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs879253778
rs879253778
1 1.000 0.080 7 37914412 frameshift variant CTGTACC/- delins 0.700 0
dbSNP: rs879255603
rs879255603
1 1.000 0.080 7 37914399 frameshift variant -/C delins 0.700 0