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: rs778381859
rs778381859
1 1.000 22 30614416 frameshift variant TC/- delins 1.2E-04 1.5E-04 0.700 1.000 2 2010 2014
dbSNP: rs1157135425
rs1157135425
1 1.000 22 30615771 frameshift variant TCTG/- delins 2.1E-05 0.700 0
dbSNP: rs1555895066
rs1555895066
1 1.000 22 30615611 frameshift variant -/T delins 0.700 0
dbSNP: rs372866837
rs372866837
1 1.000 22 30615125 intron variant A/G;T snv 0.700 0
dbSNP: rs606231119
rs606231119
1 1.000 22 30613044 splice donor variant T/G snv 0.700 0