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: rs869025223
rs869025223
1 1.000 17 41819588 frameshift variant A/- del 0.700 1.000 1 2016 2016
dbSNP: rs137853883
rs137853883
5 0.882 0.120 17 41819307 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1567855132
rs1567855132
1 1.000 17 41819371 stop gained -/TGATGGAC delins 0.700 0