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: rs1085308041
rs1085308041
12 0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 0.700 0
dbSNP: rs1085308043
rs1085308043
12 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs1085308054
rs1085308054
7 0.827 0.160 10 87952231 frameshift variant AT/- delins 0.700 0
dbSNP: rs121909218
rs121909218
25 0.672 0.360 10 87933145 missense variant G/A snv 0.700 0
dbSNP: rs121909219
rs121909219
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0