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: rs1057518795
rs1057518795
1 1.000 0.040 16 78432614 frameshift variant G/- del 0.700 0
dbSNP: rs759766243
rs759766243
1 1.000 0.040 16 78109788 stop gained C/A;T snv 4.0E-06; 4.8E-05 0.700 0