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: rs201111299
rs201111299
4 0.882 0.240 13 24906906 stop gained G/A snv 8.4E-05 9.1E-05 0.700 0
dbSNP: rs758022116
rs758022116
13 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
dbSNP: rs759188041
rs759188041
4 0.882 0.240 13 24912736 frameshift variant -/T delins 3.2E-05 3.5E-05 0.700 0