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: rs267606926
rs267606926
1 1.000 0.120 5 69509746 missense variant T/C snv 0.800 1.000 1 2010 2010
dbSNP: rs1561334604
rs1561334604
1 1.000 0.120 5 69509260 frameshift variant ATGGACCTCTCCTCCAGGAGTGA/- delins 0.700 0
dbSNP: rs749237456
rs749237456
1 1.000 0.120 5 69509601 stop gained -/A delins 0.700 0
dbSNP: rs797045840
rs797045840
2 0.925 0.120 5 69534844 splice region variant G/A snv 0.700 0
dbSNP: rs863225128
rs863225128
1 1.000 0.120 5 69509341 frameshift variant C/- delins 0.700 0