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: rs1555740394
rs1555740394
5 0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins 0.700 0
dbSNP: rs1555740650
rs1555740650
13 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
dbSNP: rs1555741826
rs1555741826
16 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0