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: rs1057518826
rs1057518826
2 0.925 0.200 1 215993103 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs111033334
rs111033334
9 0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs111033364
rs111033364
7 0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04 0.700 0
dbSNP: rs199679165
rs199679165
6 0.827 0.200 1 216097196 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs80338903
rs80338903
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
dbSNP: rs876657731
rs876657731
6 0.807 0.200 1 216073096 splice donor variant C/T snv 1.2E-05 0.700 0