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: rs201430235
rs201430235
1 1.000 0.160 10 93528032 stop gained C/A snv 1.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs1169095680
rs1169095680
1 1.000 0.160 10 93507039 frameshift variant -/A delins 4.0E-06 1.4E-05 0.700 0
dbSNP: rs141458677
rs141458677
1 1.000 0.160 10 93503185 stop gained C/T snv 2.8E-04 1.8E-04 0.700 0